Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 471-474

  Litt, Michael ^a   Kramer, Patricia ^a,b   LaMorticella, Dante M ^a   Murphey, William ^b   Lovrien, Everett W ^a   Weleber, Richard G ^a,b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLINDNESS; CHROMOSOME 21Q; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; FEMALE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; CRYSTALLINS; EXONS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HUMANS; INTRONS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0031934121     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.471     Document Type: Article

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