Mutations and common variants in the human arginase 1 (ARG1 ) gene: Impact on patients, diagnostics, and protein structure considerations-Reference-Cited by-同舟云学术

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Mutations and common variants in the human arginase 1 (ARG1 ) gene: Impact on patients, diagnostics, and protein structure considerations

Published:2018-06-21 Issue:8 Volume:39 Page:1029-1050
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Diez-Fernandez Carmen¹,Rüfenacht Véronique¹,Gemperle Corinne¹,Fingerhut Ralph¹,Häberle Johannes¹^ORCID

Affiliation:

1. University Children's Hospital Zurich; Division of Metabolism and Children's Research Center; Zurich Switzerland

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference87 articles.

1. Dietary management of urea cycle disorders: European practice;Adam;Molecular Genetics and Metabolism,2013

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. Treatment of arginase deficiency revisited: Guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring;Amayreh;Developmental Medicine and Child Neurology,2014

4. Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency;Ballantyne;Molecular Genetics and Metabolism Reports,2016

5. Strategies to rescue the consequences of inducible arginase-1 deficiency in mice;Ballantyne;PLoS One,2015

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