Article
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
Clinical biochemistry - 1 Dec 1997
Greene-Davis S T, Neumann P E, Mann O E, Moss M A, Schreiber W E, Welch J P, Langley G R, Sangalang V E, Dempsey G I, Nassar B A
Abstract excerpt
OBJECTIVES: Acute intermittent porphyria (AIP) is caused by mutations in the porphobilinogen deaminase (PBGD) gene that disrupt the function of the enzyme. Many mutations that lead to decreased PBGD activity have been described. An Arg to Trp substitution at codon 173 (CGG-->TGG in exon 10) and designated R173W, which leads to a CRIM-negative phenotype, has been reported in Swedish, Finnish, Scottish, and South...
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