A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

BACKGROUND: Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C...

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Detalles Bibliográficos
Autores principales: Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120508/
https://www.ncbi.nlm.nih.gov/pubmed/27881096
http://dx.doi.org/10.1186/s12883-016-0748-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120508/
https://www.ncbi.nlm.nih.gov/pubmed/27881096
http://dx.doi.org/10.1186/s12883-016-0748-3

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