HMBSMutations in Chinese Patients with Acute Intermittent Porphyria-Reference-Cited by-同舟云学术

HMBSMutations in Chinese Patients with Acute Intermittent Porphyria

Published:2008-09 Issue:5 Volume:72 Page:683-686
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2008.00463.x/fullpdf

Reference15 articles.

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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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3. HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review;Medicine;2023-09-29

4. Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function;FEBS Open Bio;2022-09-26

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