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Article

Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.

Neurobiology of aging - 1 Jun 2018

Razquin Cristina, Ortega-Cubero Sara, Rojo-Bustamante Estefania, Diez-Fairen Monica, Lorenzo Elena, Alonso Elena, Ezquerra Mario, Ross Owen A, Carcel Maria, Lorenzo-Betancor Oswaldo, Soto Alexandra I, Burgess Jeremy D, Ertekin-Taner Nilüfer, Dickson Dennis W, Pastor Maria A, Tolosa Eduard, Pastor Pau

Abstract excerpt

The main genetic risk factors for progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are located at chromosome 17q21.31. The identification of risk H1 subhaplotypes suggests that disease-specific variants can be identified by resequencing the 17q21.31 region (1.4 Mb) in carriers of risk H1 subhaplotypes. We hypothesized that PSP/CBD H1 subhaplotype carriers could have undergone a mutational...

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Identifiers

PMID: 29398119
DOI: 10.1016/j.neurobiolaging.2017.12.026
PMCID: PMC6769418

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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