Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 1061-1064

  Su, Ching Chyuan ^a   Li, Shuan Yow ^b,c   Su, Mao Chang ^b,c   Chen, Wei Chi ^b   Yang, Jiann Jou ^b,c  

^a TIAN SHENG MEMORIAL HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Cx26; GJB2; hearing loss; mutation

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ARTICLE; CELL MEMBRANE; CELL MIGRATION; CELLULAR DISTRIBUTION; GAP JUNCTION; GENE EXPRESSION; GENE LOCATION; GOLGI COMPLEX; HEARING LOSS; HELA CELL; HETEROZYGOSITY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY;

BASE SEQUENCE; CLONING, MOLECULAR; CONNEXINS; DNA PRIMERS; GENES, DOMINANT; HEARING LOSS; HELA CELLS; HUMANS; MUTATION;

EID: 77955980365     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.50     Document Type: Article

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