Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry

OBJECTIVE: Screening for specific coding mutations in the EFHC1 gene has been proposed as a means of assessing susceptibility to juvenile myoclonic epilepsy (JME). To clarify the role of these mutations, especially those reported to be highly penetrant, we sought to measure the frequency of exonic E...

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Detalles Bibliográficos
Autores principales: Subaran, Ryan L, Conte, Juliette M, Stewart, William C L, Greenberg, David A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Full-Length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354299/
https://www.ncbi.nlm.nih.gov/pubmed/25489633
http://dx.doi.org/10.1111/epi.12864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354299/
https://www.ncbi.nlm.nih.gov/pubmed/25489633
http://dx.doi.org/10.1111/epi.12864

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