Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference47 articles.
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3. Hepatology: a textbook of liver disease;Bonkowsky,1982
4. The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria;Brownlie;Protein Sci,1994
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1. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11
2. Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene;Frontiers in Genetics;2023-11-20
3. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review;Medicine;2023-09-29
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