Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy

Int J Stroke. 2014 Aug;9(6):E26-7. doi: 10.1111/ijs.12306.

Authors

Katherine R Smith¹, Richard J Leventer, Mark T Mackay, Kate Pope, Greta Gillies, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Affiliation

¹ Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia; Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia.

PMID: 25043520
DOI: 10.1111/ijs.12306

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases
Adult
Cerebral Angiography
Cerebrovascular Disorders / genetics*
Cerebrovascular Disorders / pathology
Cerebrovascular Disorders / physiopathology
Child
Child, Preschool
DNA Mutational Analysis
Family
Female
Genetic Linkage
Genetic Predisposition to Disease
Genetic Variation*
Humans
Magnetic Resonance Angiography
Male
Maternal Health Services
Pedigree
Ubiquitin-Protein Ligases / genetics*
White People / genetics

Substances

RNF213 protein, human
Ubiquitin-Protein Ligases
Adenosine Triphosphatases