CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

María Costales,Rodrigo Casanueva,Vanessa Suárez,José María Asensi,Guadalupe A. Cifuentes,Marta Diñeiro,Juan Cadiñanos,Fernando Lopez,César Álvarez-Marcos,Andrea Otero,Justo R. Gómez,José Luis Llorente,Rubén Cabanillas

CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

2021

María Costales
Rodrigo Casanueva
Vanessa Suárez
José María Asensi
Guadalupe A. Cifuentes
Marta Diñeiro
Juan Cadiñanos
Fernando Lopez
César Álvarez-Marcos
Andrea Otero
Justo R. Gómez
José Luis Llorente
Rubén Cabanillas

ObjectiveThe biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropat...

Keywords:

Genetics
Cerebellar ataxia
DNA Repeat Expansion
RFC1
Replication factor C
inheritance
Gene
Bilateral vestibulopathy
Medicine
Pentamer

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