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Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

✍ Scribed by Patricia M.L Ong; George W Lanyon; Richard J Hift; Janet Halkett; Michael R Moore; Charles S Mgone; Michael J Connor

Book ID
115638094
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
142 KB
Volume
10
Category
Article
ISSN
0890-8508

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Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.

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Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
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Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul