A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Journal of Medical Genetics

Volumn 37, Issue 5, 2000, Pages 368-370

  Morlé, Laurette ^a   Lina Granade, Geneviève ^d   Bozon, Muriel ^a   Alloisio, Nicole ^a   Latour, Philippe ^b   Vandenberghe, Antoon ^b   Plauchu, Henri ^c   Collet, Lionel ^d   Edery, Patrick ^a,c   Godet, Jacqueline ^a  

^a CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

^b Hopital de l'Antiquaille   (France)

^c HÔTEL DIEU   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Autosomal dominant hearing loss; C202F mutation; Connexin26 gene (GJB2)

Indexed keywords

GAP JUNCTION PROTEIN; GUANOSINE; MEMBRANE PROTEIN; THYMINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; CHILDHOOD DISEASE; CLINICAL ARTICLE; DISEASE SEVERITY; FAMILIAL DISEASE; GENE MUTATION; HEARING LOSS; HETEROZYGOSITY; HUMAN; OLIGOMERIZATION; ONSET AGE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SHORT SURVEY;

EID: 0034075770     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.5.368     Document Type: Short Survey

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