MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1890
Abstract: Charcot–Marie–Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A >… read more here.
Keywords: charcot marie; disease; tooth disease; variant site ... See more keywords
Variant site strain typer (VaST): efficient strain typing using a minimal number of variant genomic sites
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2225-z
Abstract: BackgroundTargeted PCR amplicon sequencing (TAS) techniques provide a sensitive, scalable, and cost-effective way to query and identify closely related bacterial species and strains. Typically, this is accomplished by targeting housekeeping genes that provide resolution down… read more here.
Keywords: resolution; variant site; site strain; number ... See more keywords