A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria

Clinical Science

Volumn 102, Issue 5, 2002, Pages 501-506

  Yasui, Yumiko ^a   Muranaka, Shikibu ^a   Tahara, Tsuyoshi ^a   Shimizu, Ryo ^a   Watanabe, Sonoko ^a   Horie, Yutaka ^a   Nanba, Eiji ^a   Uezato, Hiroshi ^a   Takamiyagi, Atsushi ^a   Taketani, Shigeru ^a   Akagi, Reiko ^a  

^a OKAYAMA PREFECTURAL UNIVERSITY   (Japan)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase

Indexed keywords

CATALASE;

ADULT; ALLELE; ARTICLE; BASE PAIRING; CASE REPORT; ERYTHROPOIESIS; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; FRAMESHIFT MUTATION; GENE DELETION; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPAN; MALE; MOTHER; PEDIGREE; PRIORITY JOURNAL; SIBLING; STOP CODON;

ADULT; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FERROCHELATASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; PORPHYRIA, HEPATOERYTHROPOIETIC;

EID: 18344373092     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20010226     Document Type: Article

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