Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy-Reference-Cited by-同舟云学术

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

Published:2014-07-17 Issue:6 Volume:9 Page:E26-E27
ISSN:1747-4930
Container-title:International Journal of Stroke
language:en
Short-container-title:International Journal of Stroke

Author:

Smith Katherine R.¹²,Leventer Richard J.³⁴⁵,Mackay Mark T.³⁴⁵,Pope Kate⁶⁷,Gillies Greta⁶,Delatycki Martin B.⁵⁶⁸,Amor David J.⁵⁶⁷,Bahlo Melanie¹⁹,Lockhart Paul J.⁵⁶

Affiliation:

1. Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia

2. Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia

3. Children's Neuroscience Centre, Murdoch Childrens Research Institute, Parkville, Vic., Australia

4. Department of Neurology, Royal Children's Hospital, Parkville, Vic., Australia

5. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Vic., Australia

6. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Vic., Australia

7. Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Vic., Australia

8. Clinical Genetics, Austin Health, Heidelberg, Vic., Australia

9. Department of Mathematics and Statistics, The University of Melbourne, Parkville, Vic., Australia

Funder

National Health and Medical Research Council

NHMRC Independent Medical Research Institutes Infrastructure Support Scheme

Victorian State Government Operational Infrastructure Support

Publisher

SAGE Publications

Subject

Neurology

Link

http://journals.sagepub.com/doi/pdf/10.1111/ijs.12306

Reference2 articles.

1. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

2. Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion

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