Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1356-1360

  Berry, Vanita ^a   Gregory Evans, Cheryl ^b   Emmett, Warren ^c   Waseem, Naushin ^a   Raby, Jacob ^d   Prescott, Dequincy ^a   Moore, Anthony T ^a,e   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

heterogeneity; linkage; nuclear cataract; WFS1 gene

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; WOLFRAMIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONGENITAL CATARACT; EXON; FAMILY STUDY; FEMALE; GENE; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOTYPE; HUMAN; INTRON; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; WOLFRAM GENE;

BASE SEQUENCE; CATARACT; EXONS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84887623696     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.52     Document Type: Article

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