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Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

✍ Scribed by Hervé Puy; Ulrich Groß; Jean Charles Deybach; Anne Marie Robréau; Margareta Frank; Yves Nordmann; Manfred Doss


Publisher
Springer
Year
1998
Tongue
English
Weight
83 KB
Volume
103
Category
Article
ISSN
0340-6717

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A partial deficiency of Porphobilinogen deaminase (PBG-D) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and three previously reported were found in