Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

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作者： Heather C,Mefford ^[1] ; Hiltrud,Muhle ; Philipp,Ostertag ; Sarah,von Spiczak ; Karen,Buysse ; Carl,Baker ; Andre,Franke ; Alain,Malafosse ; Pierre,Genton ; Pierre,Thomas ; Christina A,Gurnett ; Stefan,Schreiber ; Alexander G,Bassuk ; Michel,Guipponi ; Ulrich,Stephani ; Ingo,Helbig ; Evan E,Eichler

作者单位： Department of Pediatrics, University of Washington, Seattle, Washington, United States of America. hmefford@u.washington.edu ^[1]

主题词癫痫(Epilepsy);基因剂量(Gene Dosage);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因组(Genome);人类(Humans)

DOI 10.1371/journal.pgen.1000962

PMID 20502679

发布时间 2024-03-25

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