Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT

American Journal of Medical Genetics

Volumn 95, Issue 1, 2000, Pages 53-56

  Lerer, Israela ^a   Sagi, Michal ^a   Malamud, Esther ^a   Levi, Haya ^a   Raas Rothschild, Annick ^a   Abeliovich, Dvorah ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

167delT mutation; 35delG mutation; Connexin 26 gene; Nonsyndromic deafness; Variable expression

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JEW; PHENOTYPE; PRIORITY JOURNAL;

ALLELES; CHILD; CONNEXINS; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENE FREQUENCY; GENOTYPE; HUMAN; JEWS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; VARIATION (GENETICS);

EID: 0034614011     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001106)95:1<53::AID-AJMG11>3.0.CO;2-2     Document Type: Article

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