Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians-Reference-Cited by-同舟云学术

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Published:2017-06-21 Issue:8 Volume:25 Page:995-1003
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Guey Stéphanie, ,Kraemer Markus,Hervé Dominique,Ludwig Thomas,Kossorotoff Manoëlle,Bergametti Françoise,Schwitalla Jan Claudius,Choi Simone,Broseus Lucile,Callebaut Isabelle,Genin Emmanuelle,Tournier-Lasserve Elisabeth

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201792.pdf

Reference44 articles.

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3. Scott RM, Smith ER : Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360: 1226–1237.

4. Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M : Moyamoya disease and syndromes: from genetics to clinical management. Appl Clin Genet 2015; 8: 49–68.

5. Mineharu Y, Takenaka K, Yamakawa H et al: Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol Neurosurg Psychiatry 2006; 77: 1025–1029.

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