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Hydroxymethylbilane Synthase: Complete Genomic Sequence and Amplifiable Polymorphisms in the Human Gene

✍ Scribed by Han-Wook Yoo; Cecilia A. Warner; Chia-Hsiang Chen; Robert J. Desnick

Book ID
115611381
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
675 KB
Volume
15
Category
Article
ISSN
0888-7543

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Molecular basis of acute intermittent po
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene
✍ Kenneth H. Astrin; Robert J. Desnick πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 900 KB

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre