Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity-Reference-Cited by-同舟云学术

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity

Published:2021-06-03 Issue:8 Volume:42 Page:978-989
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lopes‐Marques Mónica¹²³^ORCID,Pacheco Ana Rita¹²^ORCID,Peixoto Maria João⁴⁵^ORCID,Cardoso Ana Rita¹²³^ORCID,Serrano Catarina¹²³^ORCID,Amorim António¹²³^ORCID,Prata Maria João¹²³^ORCID,Cooper David N.⁶^ORCID,Azevedo Luísa¹²³^ORCID

Affiliation:

1. i3S‐Instituto de Investigação e Inovação em Saúde, Population Genetics and Evolution Group Universidade do Porto Porto Portugal

2. IPATIMUP‐Institute of Molecular Pathology and Immunology, Population Genetics and Evolution Group University of Porto Porto Portugal

3. Faculty of Sciences, Department of Biology University of Porto Porto Portugal

4. ICVS‐ Life and Health Sciences Research Institute, School of Medicine University of Minho Braga Portugal

5. ICVS/3B's‐PT Government Associate Laboratory Braga Guimarães Portugal

6. Institute of Medical Genetics; School of Medicine Cardiff University Cardiff UK

Funder

Programa Operacional Temático Factores de Competitividade

Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24221

Reference65 articles.

1. A global reference for human genetic variation

2. Expression of Wild-Type and Mutant Human Ornithine Transcarbamylase Genes in Chinese Hamster Ovary Cells and Lack of Dominant Negative Effect of R141Q and R40H Mutants

3. Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms

4. Toward the estimation of the absolute quality of individual protein structure models

5. Modeling protein quaternary structure of homo- and hetero-oligomers beyond binary interactions by homology

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