Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. [electronic resource]
Producer: 20010726Description: 91-6 p. digitalISSN:- 1096-7192
- Adult
- Base Sequence
- Child
- Codon, Nonsense
- DNA -- chemistry
- DNA Mutational Analysis
- Family Health
- Female
- Flavoproteins
- Genetic Heterogeneity
- Humans
- Male
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Oxidoreductases -- genetics
- Oxidoreductases Acting on CH-CH Group Donors
- Polymorphism, Single-Stranded Conformational
- Porphyrias, Hepatic -- enzymology
- Protoporphyrinogen Oxidase
- Sequence Deletion
- Sequence Homology, Nucleic Acid
- South Africa
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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