Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.
Sawamura
Daisuke
D
Goto
Maki
M
Sakai
Kaori
K
Nakamura
Hideki
H
McMillan
James R
JR
Akiyama
Masashi
M
Shirado
Osamu
O
Oyama
Noritaka
N
Satoh
Masataka
M
Kaneko
Fumio
F
Takahashi
Toshiaki
T
Konno
Hidehiko
H
Shimizu
Hiroshi
H
D017398:Alternative Splicing; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D051190:Plectin / Q000235:genetics*; D012720:Severity of Illness Index
C495332:PLEC protein, human; D051190:Plectin