Mutations in FYCO1 cause autosomal-recessive congenital cataracts

American Journal of Human Genetics

Volumn 88, Issue 6, 2011, Pages 827-838

  Chen, Jianjun ^a   Ma, Zhiwei ^a   Jiao, Xiaodong ^a   Fariss, Robert ^a   Kantorow, Wanda Lee ^b   Kantorow, Marc ^b   Pras, Eran ^c,h   Frydman, Moshe ^d,h   Pras, Elon ^d,h   Riazuddin, Sheikh ^e,f   Riazuddin, S Amer ^e,g   Hejtmancik, J Fielding ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b FLORIDA ATLANTIC UNIVERSITY   (United States)

^c ASSAF HAROFEH MEDICAL CENTER   (Israel)

^d GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^e UNIVERSITY OF THE PUNJAB   (Pakistan)

^f ALLAMA IQBAL MEDICAL COLLEGE   (Pakistan)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL TISSUE; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL CATARACT; CONSANGUINEOUS MARRIAGE; EMBRYO; FEMALE; FYCO1 GENE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENOME ANALYSIS; HUMAN; LENS EPITHELIUM; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PAKISTAN; PEDIGREE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FAMILY; PROTEIN LOCALIZATION;

AMINO ACID SEQUENCE; CATARACT; DNA-BINDING PROTEINS; GENES, RECESSIVE; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 79958786419     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.05.008     Document Type: Article

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