Tissue-specific splicing mutation in acute intermittent porphyria.-Reference-Cited by-同舟云学术

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Tissue-specific splicing mutation in acute intermittent porphyria.

Published:1989-01-01 Issue:2 Volume:86 Page:661-664
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Grandchamp B.,Picat C.,Mignotte V.,Wilson J. H.,Te Velde K.,Sandkuyl L.,Romeo P. H.,Goossens M.,Nordmann Y.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Cited by 100 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. From chemistry to genomics: A concise history of the porphyrias;Liver International;2024-05-20

2. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations;American Journal of Medical Genetics Part A;2021-06-04

3. Acute Intermittent Porphyria in children: A case report and review of the literature;Molecular Genetics and Metabolism;2016-12

4. Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants;Journal of Clinical Pathology;2016-11-14

5. Acute intermittent porphyria-related leukoencephalopathy;Neurology;2016-08-24

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