Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations-Reference-Cited by-同舟云学术

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Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations

Published:2000-05 Issue:5 Volume:15 Page:480-480
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

di Montemuros Franco Martinez,Di Pierro Elena,Fargion Silvia,Biolcati Gianfranco,Griso Daniela,Macr� Annelisa,Fiorelli Gemino,Cappellini Maria Domenica

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity;Frontiers in Genetics;2024-08-12

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

3. Recent advances in the epidemiology and genetics of acute intermittent porphyria;Intractable & Rare Diseases Research;2020-10-31

4. Nonneoplastic Hematological Disorders;Self-Assessment Questions for Clinical Molecular Genetics;2019

5. A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias;European Journal of Internal Medicine;2014-07

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