Article
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
The Journal of clinical investigation - 1 Nov 1990
Delfau M H, Picat C, de Rooij F W, Hamer K, Bogard M, Wilson J H, Deybach J C, Nordmann Y, Grandchamp B
Abstract excerpt
Two mutations of the porphobilinogen (PBG) deaminase gene resulting in cross-reacting immunological material (CRIM) positive forms of acute intermittent porphyria (AIP) have been identified by in vitro amplification of cDNA and cloning of the amplified products in a bacterial expression vector. Both mutations resulted from G to A transitions in exon 10 of the gene and produced arginine to glutamine substitutions...
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