Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

European Journal of Human Genetics

Volumn 12, Issue 4, 2004, Pages 279-284

  Feldmann, Delphine ^a   Denoyelle, Françoise ^a   Loundon, Natalie ^a   Weil, Dominique ^b   Garabedian, Erea Noel ^a   Couderc, Remy ^a   Joannard, Alain ^c   Schmerber, Sébastien ^c   Delobel, Bruno ^d   Leman, Jacques ^e   Journel, Hubert ^f   Catros, Hélène ^g   Ferrec, Claude ^h   Drouin Garraud, Valérie ⁱ   Obstoy, Marie Françoise ⁱ   Moati, Lucien ^a   Petit, Christine ^b   Marlin, Sandrine ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b INSTITUT PASTEUR   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d HÔPITAL SAINT ANTOINE   (France)

^e Centre Rochin   (France)

^f Service de Génétique Médicale et Oncogénétique   (France)

^g Centre G Deshayes   (France)

^h BREST UNIVERSITY HOSPITAL   (France)

ⁱ HÔPITAL CHARLES NICOLLE   (France)

Author keywords

Connexin 26 gene; GJB2; M34T variant

Indexed keywords

CONNEXIN 26;

ALLELE; ARTICLE; AUDIOGRAPHY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL DEAFNESS; CONTROLLED STUDY; EVIDENCE BASED MEDICINE; FAMILIAL DISEASE; FRANCE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEARING LOSS; HETEROZYGOSITY; HUMAN; HYPOTHESIS; IN VITRO STUDY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PATHOGENICITY; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL;

CONNEXINS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 11144357197     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201147     Document Type: Article

References (30)

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