Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability-Reference-Cited by-同舟云学术

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Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Published:2017-03-23 Issue:6 Volume:38 Page:621-636
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Musante Luciana¹,Püttmann Lucia¹,Kahrizi Kimia²,Garshasbi Masoud¹,Hu Hao¹,Stehr Henning³,Lipkowitz Bettina¹,Otto Sabine¹,Jensen Lars R.⁴,Tzschach Andreas¹,Jamali Payman⁵,Wienker Thomas¹,Najmabadi Hossein²,Ropers Hans Hilger¹,Kuss Andreas W.⁴

Affiliation:

1. Max Planck Institute for Molecular Genetics; Berlin Germany

2. Genetics Research Center; University of Social Welfare and Rehabilitation Sciences; Tehran Iran

3. Stanford Cancer Institute, Stanford University; Stanford California

4. Department of Functional Genomics; University Medicine Greifswald; Greifswald Germany

5. Shahroud Welfare Organization; Semnan Iran

Funder

Iran National Science Foundation

Max Planck Innovation Fund

Seventh Framework Programme

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference68 articles.

1. Transfer RNA and human disease;Abbott;Frontiers in Genetics,2014

2. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nature Genetics,2002

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

4. What is a functional genetic polymorphism? Defining classes of functionality;Albert;Journal of Psychiatry & Neuroscience,2011

5. Oxidative stress in neurodegeneration: Cause or consequence?;Andersen;Nature Medicine,2004

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