Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1432-1436

  Jakobs, Petra M ^a   Hess, John F ^c   FitzGerald, Paul G ^c   Kramer, Patricia ^a,b   Weleber, Richard G ^a,b   Litt, Michael ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEADED FILAMENT PROTEIN 2; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 3Q; CONGENITAL CATARACT; DELETION MUTANT; DISEASE ASSOCIATION; GENE DELETION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ISOLATION; SEQUENCE ANALYSIS;

EID: 0033942142     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302872     Document Type: Article

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