A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness

Hearing Research

Volumn 202, Issue 1-2, 2005, Pages 258-261

  Leshinsky Silver, E ^a   Berman, Z ^a   Vinkler, C ^a   Yannov Sharav, M ^a   Lev, D ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

Author keywords

Connexin 26; Mutation; Sensorineural deafness

Indexed keywords

AMINO ACID; CONNEXIN 26; LEUCINE; PROLINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONGENITAL DEAFNESS; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; JEW; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

EID: 16344369356     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.heares.2004.11.003     Document Type: Article

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