A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes; however, they account for less than 50% of all ca...

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Detalles Bibliográficos
Autores principales: Gauhar, Zeeshan, Tejwani, Leon, Abdullah, Uzma, Saeed, Sadia, Shafique, Shagufta, Badshah, Mazhar, Choi, Jungmin, Dong, Weilai, Nelson-Williams, Carol, Lifton, Richard P., Lim, Janghoo, Raja, Ghazala K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9564319/
https://www.ncbi.nlm.nih.gov/pubmed/36231052
http://dx.doi.org/10.3390/cells11193090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9564319/
https://www.ncbi.nlm.nih.gov/pubmed/36231052
http://dx.doi.org/10.3390/cells11193090

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