Profiles

1.	Antonarakis SE, Chakravarti A, Warren AC, Slaugenhaupt SA, Wong C, Halloran SL, Metaxotou C. Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:185-90.
2.	Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metaxotou C, Antonarakis SE. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science. 1987 Aug 7; 237(4815):652-4.
3.	Chakravarti A, Slaugenhaupt SA. Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics. 1987 Sep; 1(1):35-42.
4.	Chakravarti A, Majumder PP, Slaugenhaupt SA, Deka R, Warren AC, Surti U, Ferrell RE, Antonarakis SE, et al. Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. Prog Clin Biol Res. 1989; 311:45-79.
5.	Kittur SD, Bagdon MM, Lubs ML, Phillips JA, Murray JC, Slaugenhaupt SA, Chakravarti A, Adler WH. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. Am J Hum Genet. 1989 Jan; 44(1):48-50.
6.	Warren AC, Slaugenhaupt SA, Lewis JG, Chakravarti A, Antonarakis SE. A genetic linkage map of 17 markers on human chromosome 21. Genomics. 1989 May; 4(4):579-91.
7.	Chakravarti A, Slaugenhaupt SA, Zubenko GS, et al. Inheritance pattern of platelet membrane fluidity in Alzheimer disease. Am J Hum Genet. 1989 Jun; 44(6):799-805.
8.	Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR, et al. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9.
9.	Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE. Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics. 1990 May; 7(1):136-8.
10.	Neiswanger K, Slaugenhaupt SA, Hughes HB, Frank E, Frankel DR, McCarty MJ, Chakravarti A, Zubenko GS, Kupfer DJ, Kaplan BB, et al. Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. Biol Psychiatry. 1990 Jul 1; 28(1):63-72.
11.	Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE, et al. Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics. 1990 Oct; 8(2):400-2.
12.	Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR, et al. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34.
13.	Morizot DC, Slaugenhaupt SA, Kallman KD, Chakravarti A. Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics. 1991 Feb; 127(2):399-410.
14.	Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE. A genetic linkage map of 27 markers on human chromosome 21. Genomics. 1991 Mar; 9(3):407-19.
15.	Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32.
16.	Petersen MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, Chakravarti A, Antonarakis SE, et al. Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. Hum Genet. 1991 Aug; 87(4):401-4.
17.	McInnis MG, Lutfalla G, Slaugenhaupt S, Petersen MB, Uze G, Chakravarti A, Antonarakis SE, et al. Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics. 1991 Nov; 11(3):573-6.
18.	Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M. The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet. 1992 Mar; 50(3):544-50.
19.	Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141.
20.	Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO, et al. Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet. 1993 Jan; 30(1):47-52.
21.	Kwiatkowski DJ, Armour J, Bale AE, Fountain JW, Goudie D, Haines JL, Knowles MA, Pilz A, Slaugenhaupt S, Povey S. Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet Cell Genet. 1993; 64(2):93-121.
22.	Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun; 4(2):160-4.
23.	McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun; 2(6):745-9.
24.	Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet. 1993 Aug; 4(4):351-6.
25.	Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88.
26.	Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI, Gusella JF, Tsipouras P. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar; 6(3):314-7.
27.	Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet. 1995 Jan; 21(1):83-8.
28.	Slaugenhaupt SA, Blumenfeld A, Liebert CB, Mull J, Lucente DE, Monahan M, Breakefield XO, Maayan C, Parada L, Axelrod FB, et al. The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene. Genomics. 1995 Feb 10; 25(3):730-2.
29.	Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM, et al. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics. 1995 May 20; 27(2):355-7.
30.	Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S, et al. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7859-63.
31.	Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn. 1995 Sep; 15(9):817-26.
32.	Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A. 1995 Sep 12; 92(19):8734-8.
33.	Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ, et al. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55.
34.	Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, Olopade OI, Slaugenhaupt S, Spurr NK, Smith M, Steel K, White JA, Pericak-Vance MA. Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. Ann Hum Genet. 1997 May; 61(Pt 3):183-206.
35.	Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenet Cell Genet. 1998; 83(3-4):236-7.
36.	Chadwick BP, Campbell LJ, Jackson CL, Ozelius L, Slaugenhaupt SA, Stephenson DA, Edwards JH, Wiest J, Povey S. Report and abstracts of the Sixth International Workshop on chromosome 9. Ann Hum Genet. 1999 Mar; 63(Pt 2):101-24.
37.	Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet. 1999 Apr; 64(4):1110-8.
38.	Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 1999 Jun 15; 58(3):302-9.
39.	Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet. 1999 Sep; 65(3):773-8.
40.	Chadwick BP, Gill S, Leyne M, Mull J, Liebert CB, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Slaugenhaupt SA. Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Gene. 1999 Nov 15; 240(1):67-73.
41.	Chadwick BP, Leyne M, Gill S, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome. 2000 Jan; 11(1):81-3.
42.	Togawa K, Yan YX, Inomoto T, Slaugenhaupt S, Rustgi AK. Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases. J Cell Physiol. 2000 Apr; 183(1):129-39.
43.	Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet. 2000 Oct 12; 9(17):2471-8.
44.	Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar; 68(3):598-605.
45.	Smoller JW, Acierno JS, Rosenbaum JF, Biederman J, Pollack MH, Meminger S, Pava JA, Chadwick LH, White C, Bulzacchelli M, Slaugenhaupt SA. Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions. Am J Med Genet. 2001 Mar 8; 105(2):195-206.
46.	Smoller JW, Rosenbaum JF, Biederman J, Susswein LS, Kennedy J, Kagan J, Snidman N, Laird N, Tsuang MT, Faraone SV, Schwarz A, Slaugenhaupt SA. Genetic association analysis of behavioral inhibition using candidate loci from mouse models. Am J Med Genet. 2001 Apr 8; 105(3):226-35.
47.	Acierno JS, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Genomics. 2001 Apr 15; 73(2):203-10.
48.	Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001 Sep; 20(9):579-86.
49.	Fini ME, Slaugenhaupt SA. Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches. Adv Exp Med Biol. 2002; 506(Pt A):629-39.
50.	Falardeau JL, Kennedy JC, Acierno JS, Sun M, Stahl S, Goldin E, Slaugenhaupt SA. Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics. 2002; 3(1):3.
51.	Slaugenhaupt SA. Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Clin Auton Res. 2002 May; 12 Suppl 1:I15-9.
52.	Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Curr Opin Genet Dev. 2002 Jun; 12(3):307-11.
53.	Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. 2002 Jul 23; 59(2):277-9.
54.	Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol Med. 2002 Aug; 2(5):445-50.
55.	Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. The neurogenetics of mucolipidosis type IV. Neurology. 2002 Aug 13; 59(3):306-13.
56.	LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett. 2002 Dec 4; 532(1-2):183-7.
57.	Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar; 72(3):749-58.
58.	Freed LA, Acierno JS, Dai D, Leyne M, Marshall JE, Nesta F, Levine RA, Slaugenhaupt SA. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet. 2003 Jun; 72(6):1551-9.
59.	Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. 2003 May 1; 118A(4):305-8.
60.	Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA. Hereditary dysautonomias: current knowledge and collaborations for the future. Clin Auton Res. 2003 Jun; 13(3):180-95.
61.	Mezey E, Parmalee A, Szalayova I, Gill SP, Cuajungco MP, Leyne M, Slaugenhaupt SA, Brownstein MJ. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Brain Res. 2003 Sep 5; 983(1-2):209-14.
62.	Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27.
63.	Smoller JW, Rosenbaum JF, Biederman J, Kennedy J, Dai D, Racette SR, Laird NM, Kagan J, Snidman N, Hirshfeld-Becker D, Tsuang MT, Sklar PB, Slaugenhaupt SA. Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry. 2003 Dec 15; 54(12):1376-81.
64.	Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet. 2004 Feb 15; 13(4):429-36.
65.	Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A. 2004 Mar 30; 101(13):4483-8.
66.	LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM. Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun. 2004 Oct 1; 322(4):1384-91.
67.	Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26.
68.	Smoller JW, Yamaki LH, Fagerness JA, Biederman J, Racette S, Laird NM, Kagan J, Snidman N, Faraone SV, Hirshfeld-Becker D, Tsuang MT, Slaugenhaupt SA, Rosenbaum JF, Sklar PB. The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry. 2005 Jun 15; 57(12):1485-92.
69.	Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA. Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res. 2005 Aug; 15(4):284-91.
70.	Nesta F, Leyne M, Yosefy C, Simpson C, Dai D, Marshall JE, Hung J, Slaugenhaupt SA, Levine RA. New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation. 2005 Sep 27; 112(13):2022-30.
71.	Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Siebenlist U, Merville MP, Slaugenhaupt SA, Bours V, Svejstrup JQ, Chariot A. Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell. 2006 May 19; 22(4):521-31.
72.	LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM. Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab. 2006 Dec; 89(4):339-48.
73.	Ibrahim el C, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Hum Mutat. 2007 Jan; 28(1):41-53.
74.	Hims MM, Ibrahim el C, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med. 2007 Feb; 85(2):149-61.
75.	Levine RA, Slaugenhaupt SA. Molecular genetics of mitral valve prolapse. Curr Opin Cardiol. 2007 May; 22(3):171-5.
76.	Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics. 2007 Sep; 90(3):389-96.
77.	Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet. 2007 Nov; 81(5):1070-83.

 

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