W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

Clinical Genetics

Volumn 59, Issue 4, 2001, Pages 269-273

  Tekin, M ^a   Arnos, K S ^b   Xia, X J ^a   Oelrich, M K ^b   Liu, X Z ^a   Nance, W E ^a   Pandya, A ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GALLAUDET UNIVERSITY   (United States)

Author keywords

Connexin 26; Deafness; Dominant inheritance; Heterozygous mutation

Indexed keywords

CONNEXIN 26;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL OBSERVATION; CODON; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT INHERITANCE; FAMILY; FRANCE; GENE MUTATION; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEARING IMPAIRMENT; HUMAN; ONSET AGE; PRIORITY JOURNAL; RECURRENCE RISK;

ADOLESCENT; ADULT; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDROME;

EID: 0035047780     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590409.x     Document Type: Article

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