Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A Bayesian approach
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference9 articles.
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4. A Red Cell Enzyme Method for the Diagnosis of Acute Intermittent Porphyria
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1. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias;Genetics in Medicine;2019-11
2. Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria;Annals of Human Genetics;2015-02-20
3. Seven novel genetic mutations within the 5′UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria;Blood Cells, Molecules, and Diseases;2012-10
4. Acute intermittent porphyria: Heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy;BLOOD CELL MOL DIS;2001
5. Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy;Blood Cells, Molecules, and Diseases;2001-11
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