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.
HMBS Mutations in Chinese Patients with Acute Intermittent Porphyria
β Scribed by C.-C. Yang; H.-C. Kuo; H.-L. You; J. Wang; C.-C. Huang; C.-Y. Liu; M.-Y. Lan; D. A. Stephenson; M.-J. Lee
- Book ID
- 111111445
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 480 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0003-4800
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Acute intermittent porphyria (AIP), an autosomal dominant disorder of heme biosynthesis, is due to mutations in hydroxymethylbilane synthase (HMBS; or porphobilinogen deaminase, PBGD) gene. In this study, we analyzed 20 Polish patients affected by AIP and we were able to characterize seven novel mut
## Abstract Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphi
Acute intermittent porphyria (AIP) is a metabolic disease due to a partial deficiency of hydroxymethylbilane synthase (HMBS) in heme biosynthesis. Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia inc