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  5. Cariplo 2019 1836 - Genetic spectrum and functional mechanisms of the intronic AAGGG repeat expansion in RFC1 causing canvas and late-onset ataxia (DSB.AD005.088)
Research project

Cariplo 2019 1836 - Genetic spectrum and functional mechanisms of the intronic AAGGG repeat expansion in RFC1 causing canvas and late-onset ataxia (DSB.AD005.088)

Thematic area

Biomedical sciences

Project area

Genetica (DSB.AD005)

Structure responsible for the research project

Institute of molecular genetics (IGM)

Project manager

EMMANUELE CRESPAN
Phone number: 0382546355
Email: emmanuele.crespan@igm.cnr.it

Abstract

Genetic spectrum and functional mechanisms of the intronic AAGGG repeat expansion in RFC1 causing canvas and late-onset ataxia

Start date of activity

01/09/2020

Keywords

genetic spectrum, intronic AAGGG, RFC1

Last update: 18/01/2025