Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents

BACKGROUND: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the APTX gene. The disease is characterized by early-onset cerebellar ataxia, oculomotor apraxia and severe axonal polyneuropathy. The aim of this study was to detect the...

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Detalles Bibliográficos
Autores principales: Ababneh, Nidaa A., Ali, Dema, Al-Kurdi, Ban, Sallam, Malik, Alzibdeh, Abdulla M., Salah, Bareqa, Ryalat, Abdee T., Azab, Belal, Sharrack, Basil, Awidi, Abdalla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402469/
https://www.ncbi.nlm.nih.gov/pubmed/32750061
http://dx.doi.org/10.1371/journal.pone.0236808

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