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Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China

✍ Scribed by Gang Liu; Xiaoqing Li; Huijun Shu; Yu-lin Hu; Greg Anderson; Jiaming Qian; Guangjun Nie


Book ID
116304889
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
119 KB
Volume
47
Category
Article
ISSN
1079-9796

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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.