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Detecting and Validating MAPT Mutations in Neurodegeneration Patients and Analysis of Exon Splicing Consequences.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2024

Dobson-Stone Carol, Guennewig Boris, Mundell Hamish, Kwok John B

Abstract excerpt

Mutation of MAPT has been observed in patients with parkinsonism, progressive supranuclear palsy, and corticobasal degeneration and is a significant cause of frontotemporal dementia. In this chapter, we discuss considerations for next-generation sequencing analysis to identify MAPT mutations in patient genomic DNA and describe the validation of these mutations by Sanger sequencing. One of the most common effects...

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PMID: 38512679
DOI: 10.1007/978-1-0716-3629-9_22

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MAPT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Detecting and Validating MAPT Mutations in Neurodegeneration Patients and Analysis of Exon Splicing Consequences.PMID 38512679Read ↗

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