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A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria

✍ Scribed by Sui Yu; Victor Poulos; Peter Stewart

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 336 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380070010

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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