Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry

Summary Background Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is characterized by photosensitivity and acute neurovisceral attacks that can manifest separately or together in affec...

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Veröffentlicht in:	British journal of dermatology (1951) 2012-02, Vol.166 (2), p.261-265
Hauptverfasser:	van Tuyll van Serooskerken, A.M., Drögemöller, B.I., te Velde, K., Bladergroen, R.S., Steijlen, P.M., Poblete-Gutiérrez, P., van Geel, M., van Heerden, C.J., Warnich, L., Frank, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosomes, Human, Pair 1 - genetics Dermatology Flavoproteins - genetics Gene Frequency - genetics Haplotypes - genetics Heterozygote Humans Medical sciences Metabolic diseases Microsatellite Repeats - genetics Mitochondrial Proteins - genetics Mutation - genetics Netherlands - ethnology Other metabolic disorders Pedigree Pigments (porphyrias, hyperbilirubinemias...) Polymorphism, Single Nucleotide - genetics Porphyria, Variegate - genetics Protoporphyrinogen Oxidase - genetics Skin involvement in other diseases. Miscellaneous. General aspects South Africa - ethnology
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