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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2016
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| Materias: | |
| 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 |