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Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ...