Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
Hobbs
Ryan P
RP
Han
Sandra Y
SY
van der Zwaag
Paul A
PA
Bolling
Marieke C
MC
Jongbloed
Jan D H
JD
Jonkman
Marcel F
MF
Getsios
Spiro
S
Paller
Amy S
AS
Green
Kathleen J
KJ
D051180:Desmoplakins / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn
C495294:DSP protein, human; D051180:Desmoplakins