A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
Kharfi
Monia
M
El Fekih
Nadia
N
Ammar
Donia
D
Jaafoura
Habib
H
Schwonbeck
Susanne
S
van Steensel
Maurice A M
MA
Fazaa
Bécima
B
Kamoun
Mohamed Ridha
MR
Fischer
Judith
J
D002675:Child, Preschool; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome; D011503:Transglutaminases / Q000737:chemistry / Q000235:genetics*; D014416:Tunisia
C418703:transglutaminase 5; D011503:Transglutaminases