Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient
J Invest Dermatol
.
2000 Dec;115(6):1156.
doi: 10.1046/j.1523-1747.2000.0202a.x.
Authors
T Rogounovitch
,
N Takamura
,
I Hombrados
,
C Morel
,
T Tanaka
,
Y Kameyoshi
,
Y Shimizu-Yoshida
,
H de Verneuil
,
S Yamashita
PMID:
11121156
DOI:
10.1046/j.1523-1747.2000.0202a.x
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Homozygote
Humans
Japan
Male
Middle Aged
Mutation
Porphyria, Erythropoietic* / genetics
Uroporphyrinogen III Synthetase / genetics
Substances
Uroporphyrinogen III Synthetase