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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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Neurol
Main Authors: Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5120508/
https://ncbi.nlm.nih.gov/pubmed/27881096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0748-3
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