Articles with "germline expansion" as a keyword



Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

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Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac224

Abstract: Abstract We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene… read more here.

Keywords: huntington disease; diversity; htt gene; germline expansion ... See more keywords