KEGG   VARIANT: 5317v1
Entry
5317v1                      Variant                                
Name
PKP1 mutation
Type
Loss of function
Gene
PKP1  plakophilin 1 [KO:K10387]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601975
Network
nt06545  Cornified envelope formation
Disease
H00644  Ectodermal dysplasia/skin fragility syndrome
Reference
PMID:16781314
  Authors
Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA
  Title
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
  Journal
J Am Acad Dermatol 55:157-61 (2006)
DOI:10.1016/j.jaad.2005.10.002
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