Identification of five novel mutations in the porphobilinogen deaminase gene-Reference-Cited by-同舟云学术

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Identification of five novel mutations in the porphobilinogen deaminase gene

Published:1994 Issue:5 Volume:3 Page:809-811
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

S.Mgone Charles,Lanyon W.George,R.Moore Michael,Louie Gordon V.,Connor James M.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/3/5/809/1700857/3-5-809.pdf

Cited by 22 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 55 Spanish Patients with Acute Intermittent Porphyria;Genes;2020-08-12

2. Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report;Clinical Case Reports;2020-07-30

3. 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

4. Acute Intermittent Porphyria in Argentina: An Update;BioMed Research International;2015

5. Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria;Bioscience Reports;2013-08-01

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