A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 11, 2000, Pages 3511-3515

  Pras, E ^a   Frydman, M ^a   Levy Nissenbaum, E ^a   Bakhan, T ^a   Raz, J ^a   Assia, E I ^a   Goldman, B ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 21Q; CONGENITAL CATARACT; CONTROLLED STUDY; FAMILY; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; IRAN; JEW; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

CATARACT; CHROMOSOMES, HUMAN, PAIR 21; CODON, TERMINATOR; CONSANGUINITY; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EYE DISEASES, HEREDITARY; FEMALE; GENETIC MARKERS; GENOTYPE; HUMAN; ISRAEL; JEWS; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; PEDIGREE; PERSIA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SUPPORT, NON-U.S. GOV'T;

EID: 0033771250     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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