A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference8 articles.
1. The porphyries;Kappas,1989
2. A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria;Sakabe;Blood Cells Mol. Dis.,2008
3. Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy;Martinez di Montemuros;Blood Cells Mol. Dis.,2001
4. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation;De Siervi;Am. J. Med. Genet.,1999
5. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria;Ulbrichova;Blood Cells Mol. Dis.,2009
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1. Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria;Annals of Human Genetics;2015-02-20
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