Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human β-crystallin gene CRYBB2

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 665-668

  Litt, Michael ^a   Carrero Valenzuela, Roque ^a   LaMorticella, Dante M ^a   Schultz, Dennis W ^a   Mitchell, Thomas N ^c   Kramer, Patricia ^a,b   Maumenee, Irene H ^c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 22; CLINICAL ARTICLE; CONGENITAL CATARACT; FEMALE; GENE MAPPING; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; STOP CODON;

EID: 0030914095     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.665     Document Type: Article

References (27)

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