Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria

Clinical Biochemistry

Volumn 33, Issue 6, 2000, Pages 495-500

  Maeda, Naoto ^a   Horie, Yutaka ^a   Sasaki, Yuichiro ^a   Adachi, Kaori ^b   Nanba, Eiji ^b   Nishida, Kenji ^c   Saigo, Ryuji ^d   Nakagawa, Masanori ^d   Kawasaki, Hironaka ^a   Kudo, Yoshiro ^e   Kondo, Masao ^f  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c TOKYO METROPOLITAN TAMA MEDICAL CENTER   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NATIONAL INSTITUTE OF PUBLIC HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ARTICLE; CASE REPORT; GENE MUTATION; HEME SYNTHESIS; HUMAN; HUMAN CELL; PORPHYRIA; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AMINO ACID SEQUENCE; DNA; DNA, COMPLEMENTARY; FEMALE; FLAVOPROTEINS; GENETIC SCREENING; HUMANS; JAPAN; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIAS, HEPATIC; PROTOPORPHYRINOGEN OXIDASE; SEQUENCE ALIGNMENT;

EID: 0033750455     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(00)00142-9     Document Type: Article

References (24)

1. The porphyrias
2. Performance of screening tests for porphyria
3. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli
4. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
5. The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1
6. Protoporphyrinogen oxidase: Complete genomic sequence and polymorphisms in the human gene
7. Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
8. Porphyrias in Japan
9. Human orosomucoid polymorphism: Molecular basis of the three common ORM1 alleles, ORMI*F1, ORMI*F2, and ORMI*S
10. The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Shuur Hospital, Cape Town
11. Porphyria - The UCT experience
12. A R59W mutation in protoporphyrinogen oxidase results in decreased enzyme activity and its prevalent in South Africans with variegate porphyria
13. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South Africa families with variegate porphyria
14. Linkage disequilibrium analysis in a recently founded population: Evaluation of the variegate porphyria founder in South African Afrikaners
15. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria
16. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria
17. Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
18. Cloning, sequence, and expression of mouse protoporphyrinogen oxidase
19. Molecular cloning and characterization of a cDNA that encodes protoporphyrinogen oxidase of Arabidopsis thaliana
20. Isolation and characterization of a mutant protoporphyrinogen oxidase gene from Chlamydomonas reinhardtii conferring resistance to porphyric herbicides
21. Diagnosis of porphyric syndromes: A practical approach in the era of molecular biology
22. Acute intermittent porphyria in a native North American family. Biochemical and molecular analysis
23. Acute intermittent porphyria: Laboratory diagnosis by molecular methods