Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
Oh Adib
Carol
C
Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland. caroloh@bigpond.net.au
Jones
Brad
B
Liao
Haihui
H
Smith
Frances J D
FJ
Solomon
Rustum
R
Egan
Conleth A
CA
Leachman
Sancy
S
D000328:Adult; D000367:Age Factors; D003937:Diagnosis, Differential; D004814:Epidermal Cyst / Q000235:genetics; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics; D053549:Pachyonychia Congenita / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree
D053537:Keratin-17