Characterization ofSPATA5-related encephalopathy in early childhood-Reference-Cited by-同舟云学术

Characterization ofSPATA5-related encephalopathy in early childhood

Published:2016-07-04 Issue:5 Volume:90 Page:437-444
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kurata H.¹,Terashima H.²,Nakashima M.³,Okazaki T.¹,Matsumura W.¹,Ohno K.¹,Saito Y.¹,Maegaki Y.¹,Kubota M.²,Nanba E.⁴,Saitsu H.⁵,Matsumoto N.³,Kato M.⁶

Affiliation:

1. Division of Child Neurology, Department of Brain, and Neurosciences, Faculty of Medicine; Tottori University; Yonago Japan

2. Division of Neurology; National Center for Child Health and Development; Tokyo Japan

3. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

4. Division of Functional Genomics, Research Center for Bioscience, and Technology; Tottori University; Yonago Japan

5. Department of Biochemistry; Hamamatsu University School of Medicine; Hamamatsu Japan

6. Department of Pediatrics; Showa University School of Medicine; Tokyo Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12813/fullpdf

Reference18 articles.

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4. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;Kumar;Nat Protoc,2009

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

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