Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene

Proceedings of the National Academy of Sciences of the United States of America

Volumn 96, Issue 3, 1999, Pages 1008-1012

  Stephan, Dietrich A ^a   Gillanders, Elizabeth ^a   Vanderveen, Deborah ^d   Freas Lutz, Diana ^a   Wistow, Graeme ^b   Baxevanis, Andreas D ^a   Robbins, Christiane M ^a   Vanauken, Ann ^a   Quesenberry, Matthew I ^a   Bailey Wilson, Joan ^a   Juo, Suh Hang Hank ^a   Trent, Jeffrey M ^a   Smith, Lois ^d   Brownstein, Michael J ^a,c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA CRYSTALLIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CATARACTOGENESIS; DNA SEQUENCE; GENE MUTATION; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL;

AGE OF ONSET; ANIMALS; CATARACT; CATTLE; CRYSTALLINS; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MODELS, MOLECULAR; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY;

EID: 13044250483     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.96.3.1008     Document Type: Article

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