Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria-Reference-Cited by-同舟云学术

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Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

Published:1998-05-29 Issue:5 Volume:102 Page:541-548
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Mustajoki S.,Pihlaja Hannele,Ahola Helena,Petersen Niels Erik,Mustajoki Pertti,Kauppinen Raili

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050737.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. Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene;Frontiers in Genetics;2023-11-20

2. Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators;International Journal of Molecular Sciences;2021-01-12

3. Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP);Molecular Genetics and Metabolism;2018-11

4. Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone;Annals of Human Genetics;2015-03-18

5. A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria;Genetics and Molecular Biology;2007

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