A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.
Muslumanoglu
M H
MH
Department of Medical Genetics , Osmangazi University Medical Faculty, Eskisehir 26480, Turkey. mhm@ogu.edu.tr
Saracoglu
N
N
Cilingir
O
O
Basmaci
T
T
Urer
S
S
Sabuncu
I
I
Demir
S
S
Bademci
G
G
Artan
S
S
D000293:Adolescent; D000950:Antigens, Ly / Q000235:genetics*; D001483:Base Sequence; D003241:Consanguinity; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics*
D000950:Antigens, Ly; C048963:SLURP1 protein, human; D014568:Urokinase-Type Plasminogen Activator