Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations-Reference-Cited by-同舟云学术

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Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

Published:2017-02-15 Issue:5 Volume:38 Page:471-484
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Diez-Fernandez Carmen¹,Rüfenacht Véronique¹,Häberle Johannes¹

Affiliation:

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

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23184/fullpdf

Reference83 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Studies of renal urea cycle enzymes. I. Renal concentrating ability and urea cycle enzymes in the rat during protein deprivation.;Aperia;Scand J Clin Lab Invest,1979

3. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene;Balmer;Hum Mutat,2014

4. The human argininosuccinate synthetase locus and citrullinemia;Beaudet;Adv Hum Genet,1986

5. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome;Beltcheva;Hum Mutat,2001

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