A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome-Reference-Cited by-同舟云学术

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A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome

Published:2020-05-04 Issue:1 Volume:22 Page:516-524
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Rep

Author:

Yang Yang¹,Chen Xiyun²,Wu Huijuan³,Peng Hua³,Sun Wenjing¹,He Bin³,Yuan Zhengang²

Affiliation:

1. Department of Neurology, The Third Affiliated Hospital of The Second Military Medical University, Shanghai 200438, P.R. China

2. Department of Hematology and Oncology, The Third Affiliated Hospital of The Second Military Medical University, Shanghai 200438, P.R. China

3. Department of Neurology, The Second Affiliated Hospital of The Second Military Medical University, Shanghai 200003, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Cited by 6 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. Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient;Frontiers in Genetics;2023-12-19

2. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11

3. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria;International Journal of Molecular Sciences;2021-10-12

4. Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria;Clinical Genetics;2021-09-24

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

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