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

doi:10.1046/j.1523-1747.2001.01293.x

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Article

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

The Journal of investigative dermatology - 1 Apr 2001

Kauppinen R, Timonen K, von und zu Fraunberg M, Laitinen E, Ahola H, Tenhunen R, Taketani S, Mustajoki P

Abstract excerpt

The long-term follow-up of a homozygous variegate porphyria patient revealed severe photosensitivity accompanied by mild sensory neuropathy and IgA nephropathy. A 35T to C transition in exon 2 (I12T) and a 767C to G transversion in exon 7 (P256R) of the protoporphyrinogen oxidase gene were identified from both alleles of the patient's cDNA and genomic DNA samples. Both prokaryotic and eukaryotic expression...

Topics

Base Sequence
Flavoproteins
Follow-Up Studies
Genetic Variation
Homozygote
Humans
Male
Mitochondrial Proteins
Molecular Sequence Data
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Pedigree
Porphyrias
Protoporphyrinogen Oxidase

Source

Open in PubMed

Identifiers

PMID: 11286631
DOI: 10.1046/j.1523-1747.2001.01293.x

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