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DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria

✍ Scribed by Jin-Sung Lee; Maria Anvret; Jan Lindsten; Lars Lannfelt; Pär Gellerfors; Lennart Wetterberg; Ylva Floderus; Stig Thunell

Publisher
Springer
Year
1988
Tongue
English
Weight
286 KB
Volume
79
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