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DNA polymorphisms within the porphobilinogen deaminase gene in acute intermittent porphyria

✍ Scribed by Irifune, Hiroko; Hamabe, Jun-Ichi; Nonaka, Shigeo; Yoshida, Hikotaro; Niikawa, Norio

Book ID: 122763418
Publisher: Elsevier Science
Year: 1990
Tongue: English
Weight: 124 KB
Volume: 1
Category: Article
ISSN: 0923-1811
DOI: 10.1016/0923-1811(90)90742-V

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Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with