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Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
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Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Am J Hum Genet. 2012 Mar 09; 90(3):533-9.
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PubMed
subject areas
Alleles
Animals
Carrier Proteins
Case-Control Studies
Cells, Cultured
Chromosomes
Cohort Studies
Endothelium, Corneal
Exons
Fuchs' Endothelial Dystrophy
Genetic Linkage
Genetic Loci
Genetic Variation
Genome-Wide Association Study
Haplotypes
Heterozygote
Humans
Introns
Mice
Mutation, Missense
Pedigree
Phenotype
RNA, Messenger
authors with profiles
Ula V. Jurkunas, M.D.