Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2

Ataxia with oculomotor apraxia type 2 (AOA2) is caused by a diversity of mutations within the coding region of the senataxin gene. Recently, rare noncoding senataxin mutations affecting RNA processing have been identified in AOA2. Here, we report the case of an 18-year-old woman, with classic clinic...

Descripción completa

Detalles Bibliográficos
Autores principales: Fogel, Brent L., Lee, Ji Yong, Perlman, Susan
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788137/
https://www.ncbi.nlm.nih.gov/pubmed/19727998
http://dx.doi.org/10.1007/s12311-009-0130-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2788137/
https://www.ncbi.nlm.nih.gov/pubmed/19727998
http://dx.doi.org/10.1007/s12311-009-0130-8

Ejemplares similares