title: Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.
authors.affiliation: 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.
authors.forename: Katherine R
authors.initials: KR
authors.lastname: Smith
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Leventer
authors.forename: Mark T
authors.initials: MT
authors.lastname: Mackay
authors.forename: Kate
authors.initials: K
authors.lastname: Pope
authors.forename: Greta
authors.initials: G
authors.lastname: Gillies
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
authors.forename: Melanie
authors.initials: M
authors.lastname: Bahlo
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
mesh_terms: D000251:Adenosine Triphosphatases; D000328:Adult; D002533:Cerebral Angiography; D002561:Cerebrovascular Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D008427:Maternal Health Services; D010375:Pedigree; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases