Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation-Reference-Cited by-同舟云学术

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation

Published:2016-04-26 Issue:1 Volume:4 Page:132-135
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Abbas Masoom M.¹,Govindappa Shyla T.¹,Sheerin Una-Marie²,Bhatia Kailash P.³,Muthane Uday B.¹

Affiliation:

1. Parkinson's and Ageing Research Foundation; Bangalore India

2. Department of Molecular Neuroscience; UCL Institute of Neurology; University College London; London United Kingdom

3. UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery; London United Kingdom

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mdc3.12353/fullpdf

Reference9 articles.

1. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome;Najim;Acta Neurol Scand,1994

2. The International Genome Sample Resource (IGSR) and the 1000 Genomes Project Global reference of human genetic variation http://www.1000genomes.org/

3. National Heart, Lung, and Blood Institute (NHLBI) NHLBI Exome Sequencing Project (ESP) database 2015 http://evs.gs.washington.edu/EVS

4. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype;Ning;Neurology,2008

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