Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis-Reference-Cited by-同舟云学术

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Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

Published:1994-01 Issue:1 Volume:93 Page:47-52
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gu Xue-Fan,de Rooij Felix,Voortman Gardi,Te Velde Kor,Deybach Jean-Charles,Nordmann Yves,Grandchamp Bernard

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00218912.pdf

Cited by 50 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. Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism;iScience;2021-03

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. From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria;Human Molecular Genetics;2018-01-17

4. Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria;Annals of Human Genetics;2015-02-20

5. Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2006-09

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