A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening.

Journal of Genetics and Genomics(2016)

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摘要
Charcot-Marie-Tooth(CMT)disease is the most common hereditary neuropathy,with a population prevalence of 1 in2500.CMT disease type 1A(CMT1A),accounting for w70%of CMT1 cases and w50%of all CMT cases,is transmitted in an autosomal dominant manner.CMT1A maps to chromosome 17p11.2 and is caused,in the majority of cases,by a 1.4-
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