Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
Kokotas
Haris
H
Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Athens, Greece. hkokotas@yahoo.gr
Grigoriadou
Maria
M
Korres
George S
GS
Ferekidou
Elisabeth
E
Giannoulia-Karantana
Aglaia
A
Kandiloros
Dimitrios
D
Korres
Stavros
S
Petersen
Michael B
MB
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D019683:Penetrance; D010641:Phenotype
D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26