Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
Greene-Davis, S T
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. [electronic resource] - Clinical biochemistry Dec 1997 - 607-12 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0009-9120
10.1016/s0009-9120(97)00114-8 doi
Adult
Christianity
Female
Genetics, Population
Humans
Hydroxymethylbilane Synthase--genetics
Mutation
Nova Scotia
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Porphyria, Acute Intermittent--genetics
Sequence Analysis, DNA
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. [electronic resource] - Clinical biochemistry Dec 1997 - 607-12 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0009-9120
10.1016/s0009-9120(97)00114-8 doi
Adult
Christianity
Female
Genetics, Population
Humans
Hydroxymethylbilane Synthase--genetics
Mutation
Nova Scotia
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Porphyria, Acute Intermittent--genetics
Sequence Analysis, DNA