Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. [electronic resource]
- Molecular genetics and metabolism May 2001
- 91-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1096-7192
10.1006/mgme.2001.3163 doi
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