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Article

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020

Squitieri Ferdinando, Mazza Tommaso, Maffi Sabrina, De Luca Alessandro, AlSalmi Qasem, AlHarasi Salma, Collins Jennifer A, Kay Chris, Baine-Savanhu Fiona, Landwhermeyer Bernard G, Sabatini Umberto, Hayden Michael R

Abstract excerpt

PURPOSE: We aimed to determine the origin and genetic characteristics of Huntington disease (HD) in the Middle East. METHODS: We performed genetic and genealogical analyses to establish the ancestral origin of the HTT pathgenic variant from a large kindred from Oman (hereafter called the OM-HD-01 pedigree) by single-nucleotide polymorphism and dense haplotype analysis genotyping. RESULTS: We traced the oldest...

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Identifiers

PMID: 32661355
DOI: 10.1038/s41436-020-0895-1

Genes

HTT
C6
C9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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