A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.
Terrinoni
Alessandro
A
Leta
Aida
A
Pedicelli
Cristina
C
Candi
Eleonora
E
Ranalli
Marco
M
Puddu
Pietro
P
Paradis
Mauro
M
Angelo
Corrado
C
Bagetta
Giancinto
G
Melino
Gerry
G
Baggetta
Giancinto
G
D000293:Adolescent; D017630:Connexins / Q000235:genetics*; D004890:Erythema / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007642:Keratosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012873:Skin Diseases, Genetic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
D017630:Connexins; C068044:GJB3 protein, human