Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants-Reference-Cited by-同舟云学术

Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Published:2017-05-23 Issue: Volume: Page:
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Zaki Osama K.,Priya Doss C George,Ali Salsabil A.,Murad Ghadeer G.,Elashi Shaima A.,Ebnou Maryam S.A.,Kumar D Thirumal,Khalifa Ola,Gamal Radwa,El Abd Heba S.A.,Nasr Bilal N.,Zayed Hatem

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/26/16/3105/19282366/ddx195.pdf

Reference30 articles.

1. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity;Am. J. Med. Genet,2006

2. Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts;J. Clin. Invest,1990

3. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia;Eur. J. Med. Genet,2014

4. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening;Am. J. Hum. Genet,2004

5. Isovaleric acidemia: a new genetic defect of leucine metabolism;Proc. Natl Acad. Sci. USA,1966

Cited by 28 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. Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants;Molecular Genetics and Metabolism Reports;2024-06

2. Differential glycosylation in mutant vitamin D-binding protein decimates the binding stability of vitamin D;Journal of Biomolecular Structure and Dynamics;2023-06-25

3. Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human POR gene: a structural and functional impact;Journal of Biomolecular Structure and Dynamics;2023-05-12

4. In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility;Journal of Biomolecular Structure and Dynamics;2023-03-30

5. High risk genetic variants of human insulin receptor substrate 1(IRS1) infer structural instability and functional interference;Journal of Biomolecular Structure and Dynamics;2023-03-12