Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Lamartine
J
J
Laboratoire de Génomique et Radiobiologie du Kératinocyte (EA 2541: Université d'Evry/CEA), Service de Génomique Fonctionnelle, Département de Radiobiologie et Radiopathologie, Evry, France.
Munhoz Essenfelder
G
G
Kibar
Z
Z
Lanneluc
I
I
Callouet
E
E
Laoudj
D
D
Lemaître
G
G
Hand
C
C
Hayflick
S J
SJ
Zonana
J
J
Antonarakis
S
S
Radhakrishna
U
U
Kelsell
D P
DP
Christianson
A L
AL
Pitaval
A
A
Der Kaloustian
V
V
Fraser
C
C
Blanchet-Bardon
C
C
Rouleau
G A
GA
Waksman
G
G
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001120:Arginine; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; C100629:Gjb6 protein, mouse; D001120:Arginine; D005998:Glycine