Congenital erythropoietic porphyria: A novel homozygous mutation in a Japanese patient [1]

Journal of Investigative Dermatology

Volumn 115, Issue 6, 2000, Pages 1156-

  Rogounovitch, Tatiana ^a   Takamura, Noboru ^a   Hombrados, Isabelle ^b   Morel, Carine ^b   Tanaka, Toshihiko ^c   Kameyoshi, Yoshikazu ^c   Shimizu Yoshida, Yuki ^a   De Verneuil, Hubert ^b   Yamashita, Shunichi ^a  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITÉ DE BORDEAUX   (France)

^c HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; ISOLEUCINE; PORPHYRIN; THREONINE; UROPORPHYRIN;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; JAPAN; LETTER; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0034520503     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.0202a.x     Document Type: Letter

References (4)

1. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur
2. Gene therapy for erythropoietic porphyrias
3. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family
4. Correction of congenital erythropoietic porphyria by bone marrow transplantation