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Biochemical compared to molecular diagnosis in acute intermittent porphyria

✍ Scribed by U. Groß; H. Puy; K. Jacob; J. C. Deybach; J. Kremer; M. O. Doss

Publisher
Springer
Year
2006
Tongue
English
Weight
260 KB
Volume
29
Category
Article
ISSN
0141-8955

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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.