Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Grifa
A
A
Wagner
C A
CA
D'Ambrosio
L
L
Melchionda
S
S
Bernardi
F
F
Lopez-Bigas
N
N
Rabionet
R
R
Arbones
M
M
Monica
M D
MD
Estivill
X
X
Zelante
L
L
Lang
F
F
Gasparini
P
P
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002882:Chromosomes, Human, Pair 13; D000075302:Connexin 30; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D014981:Xenopus / Q000378:metabolism; D029867:Xenopus Proteins; D000097002:Gap Junction beta-1 Protein
D000075302:Connexin 30; D017630:Connexins; D029867:Xenopus Proteins; D000097002:Gap Junction beta-1 Protein; C491020:GJB6 protein, human; C100629:Gjb6 protein, mouse