Data from: PCNT point mutations and familial intracranial aneurysms

Oswaldo Lorenzo-Betancor, Patrick R. Blackburn, Emily Edwards, Rocío Vázquez-Do-Campo, Eric W. Klee, Catherine Labbé, Kyndall Hodges, Patrick Glover, Ashley N. Sigafoos, Alexandra I. Soto, Ronald L. Walton, Stephen Doxsey, Michael B. Bober, Sarah Jennings, Karl J. Clark, Yan Asmann, David Miller, William D. Freeman, James Meschia & Owen A. Ross
Objective: To identify novel genes involved in the etiology of intracranial aneurysms (IA) and / or subarachnoid hemorrhages (SAH) using whole exome sequencing. Methods. In the present study we performed whole exome sequencing in thirteen individuals from three families with an autosomal dominant IA/SAH inheritance pattern to look for candidate genes for disease. Additionally, we sequenced PCNT exon 38 in 161 sporadic IA/SAH patients in order to find additional carriers of potential pathogenic variants. Results....
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