Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients

Variegate porphyria (VP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of protoporphyrinogen oxidase (PPOX). Patients with VP may experience acute neurovisceral attacks and cutaneous photosensitivity. To date we have characterized 109 VP patients representing 1...

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Veröffentlicht in:	Molecular medicine (Cambridge, Mass.) Mass.), 2001-05, Vol.7 (5), p.320-328
Hauptverfasser:	von und zu Fraunberg, M, Tenhunen, R, Kauppinen, R
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals COS Cells DNA Mutational Analysis Escherichia coli Escherichia coli Proteins Exons Female Finland Flavoproteins Frameshift Mutation Genetic Carrier Screening Heterozygote Humans Male Mitochondrial Proteins Mutation Mutation, Missense Oxidoreductases - deficiency Oxidoreductases - genetics Oxidoreductases Acting on CH-CH Group Donors Pedigree Point Mutation Porphyrias, Hepatic - diagnosis Porphyrias, Hepatic - genetics Protoporphyrinogen Oxidase Restriction Mapping Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Transcription, Genetic
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