Corrigall, A V

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