PCNT point mutations and familial intracranial aneurysms

OBJECTIVETo identify novel genes involved in the etiology of intracranial aneurysms (IAs) or subarachnoid hemorrhages (SAHs) using whole-exome sequencing. METHODSWe performed whole-exome sequencing in 13 individuals from 3 families with an autosomal dominant IA/SAH inheritance pattern to look for ca...

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Veröffentlicht in:	Neurology 2018-12, Vol.91 (23), p.e2170-e2181
Hauptverfasser:	Lorenzo-Betancor, Oswaldo, Blackburn, Patrick R, Edwards, Emily, Vázquez-do-Campo, Rocío, Klee, Eric W, Labbé, Catherine, Hodges, Kyndall, Glover, Patrick, Sigafoos, Ashley N, Soto, Alexandra I, Walton, Ronald L, Doxsey, Stephen, Bober, Michael B, Jennings, Sarah, Clark, Karl J, Asmann, Yan, Miller, David, Freeman, William D, Meschia, James, Ross, Owen A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Antigens - genetics Female Genetic Predisposition to Disease - genetics Humans Intracranial Aneurysm - genetics Male Middle Aged Pedigree Point Mutation Subarachnoid Hemorrhage - genetics Whole Exome Sequencing Young Adult
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