HMBSMutations in Chinese Patients with Acute Intermittent Porphyria

Author:

Yang C.-C.,Kuo H.-C.,You H.-L.,Wang J.,Huang C.-C.,Liu C.-Y.,Lan M.-Y.,Stephenson D. A.,Lee M.-J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Recommendations for the diagnosis and treatment of the acute porphyrias;Anderson;Ann Intern Med,2005

2. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study;Andersson;Scand J Clin Lab Invest,2000

3. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene;Grandchamp;Eur J Biochem,1987

4. Acute intermittent porphyria;Herrick;Best Pract Res Clin Gastroenterol,2005

5. May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population;Hrdinka;Physiol Res,2006

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