Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect

Journal of Investigative Dermatology

Volumn 116, Issue 4, 2001, Pages 610-613

  Kauppinen, Raili ^d   Timonen, Kaisa ^a   Von, Mikael ^d   Fraunberg, Und Zu ^d   Laitinen, Eila ^b   Ahola, Helena ^d   Tenhunen, Raimo ^b   Taketani, Shigeru ^c   Mustajoki, Pertti ^d  

^a Department of Medicine   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KYOTO INSTITUTE OF TECHNOLOGY   (Japan)

^d NONE

Author keywords

Mutation; Porphyria; Protoporphyrinogen oxidase; Variegate porphyria

Indexed keywords

COMPLEMENTARY DNA; PROTOPORPHYRINOGEN OXIDASE;

ALLELE; ANIMAL CELL; ARTICLE; CELL STRAIN COS1; ENZYME ACTIVITY; EXON; GENE EXPRESSION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; IMMUNOGLOBULIN A NEPHROPATHY; NONHUMAN; PHOTOSENSITIVITY; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; SENSORY NEUROPATHY;

EID: 0035052281     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.01293.x     Document Type: Article

References (20)

1. Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol hydroxylase, a bile acid biosynthetic enzyme
2. The enzymatic defect in variegate porphyrin studies with human cultured skin
3. Isolation of biologically activated ribonucleic acid from sources enriched in ribonuclease
4. The inherited enzymatic defect in porphyria variegate
5. Homozygous variegate porphyria: Identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband
6. Homozygous variegate porphyria: An evolving clinical syndrome
7. Simple and rapid preparation of samples for PCR
8. Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processor
9. The occurrence and determination of delta-aminolevulinic acid and porphobilinogen in urine
10. AR59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
11. Variegate porphyria: Twelve years' experience in Finland
12. Homozygous variegate porphyria: A severe skin disease of infancy
13. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hem G mutant of Escherichia coli
14. Homozygous variegate porphyria: A compound heterozygote with novel mutations in the PPOX gene
15. A plasma porphyria fluorescent marker for variegate porphyria
16. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
17. Molecular characterization of homozygous variegate porphyria
18. The human protoporphyrinogen oxidase gene (PPOX): Organization and localization to chromosome 1
19. Variegate porphyria in Western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, absence of correlation between phenotype and type of mutation