Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
Wessagowit
Vesarat
V
McGrath
John A
JA
D004476:Ectodermal Dysplasia / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D051191:Plakophilins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*
C495335:PKP1 protein, human; D051191:Plakophilins; D022821:RNA Splice Sites