Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3

作者: Caroline Vance , Ammar Al-Chalabi , Deborah Ruddy , Bradley N. Smith , Xun Hu

DOI: 10.1093/BRAIN/AWL030

关键词: C9orf72 ProteinPenetranceCharged multivesicular body protein 2BAmyotrophic lateral sclerosisFrontotemporal dementiaGeneticsHaplotypeBiologySingle-nucleotide polymorphismGenetic linkage

摘要: … SOD1 has provided only one piece of the molecular jigsaw puzzle, and progress in identifying other autosomal dominant ALS genes has been slow. Linkage to 20q13 was identified in …

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