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Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Fami...

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Fami...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_eeca6d89cbe34221a46967e221f5714c

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia

About this item

Full title

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia

Publisher

Basel: MDPI AG

Journal title

Cells (Basel, Switzerland), 2023-08, Vol.12 (16), p.2053

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease with a wide variability in age of onset. Its causes are not known. In the present study, we aimed to analyze genetic risk factors other than the prion protein gene (PRNP), in FFI patients with varying ages of onset. Whole-exome sequencing (WES) analysis was performed...

Alternative Titles

Full title

Genetic Variants Associated with the Age of Onset Identified by Whole-Exome Sequencing in Fatal Familial Insomnia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_eeca6d89cbe34221a46967e221f5714c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_eeca6d89cbe34221a46967e221f5714c

Other Identifiers

ISSN

2073-4409

E-ISSN

2073-4409

DOI

10.3390/cells12162053

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