R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
Iossa
Sandra
S
CEINGE-Biotecnologie Avanzate, Naples, Italy.
Chinetti
Viviana
V
Corvino
Virginia
V
Marciano
Elio
E
Franzè
Annamaria
A
D000328:Adult; D019943:Amino Acid Substitution; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D020868:Gene Silencing; D005799:Genes, Dominant; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26