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Identification of a novel MKS locus defined by TMEM107 mutation.
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Identification of a novel MKS locus defined by TMEM107 mutation.
Identification of a novel MKS locus defined by TMEM107 mutation. Hum Mol Genet. 2015 Sep 15; 24(18):5211-8.
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PubMed
subject areas
Alleles
Cilia
Ciliary Motility Disorders
Consanguinity
DNA Mutational Analysis
Encephalocele
Female
Genetic Heterogeneity
Genetic Loci
Genotype
Hedgehog Proteins
Humans
Male
Membrane Proteins
Mutation
Pedigree
Polycystic Kidney Diseases
Retinitis Pigmentosa
Signal Transduction
authors with profiles
Fowzan Sami Alkuraya, M.B.,B.S.