Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene-Reference-Cited by-同舟云学术

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Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Published:2000-09-25 Issue:3 Volume:107 Page:243-248
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Whatley Sharon D.,Roberts Andrew G.,Llewellyn David H.,Bennett Christopher P.,Garrett Christine,Elder George H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390000356.pdf

Cited by 27 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. Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs;Seminars in Liver Disease;2024-05

2. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation;The American Journal of Human Genetics;2023-10

3. First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria;Life;2023-09-10

4. Diagnóstico, evaluación y seguimiento de la porfiria hepática aguda;Medicina Clínica;2023-09

5. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation;2023-02-06

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