Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

BACKGROUND: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American famil...

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Detalles Bibliográficos
Autores principales: Hedera, Peter, Xiao, Jianfeng, Puschmann, Andreas, Momčilović, Dragana, Wu, Steve W, LeDoux, Mark S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460747/
https://www.ncbi.nlm.nih.gov/pubmed/22985072
http://dx.doi.org/10.1186/1471-2377-12-93

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3460747/
https://www.ncbi.nlm.nih.gov/pubmed/22985072
http://dx.doi.org/10.1186/1471-2377-12-93

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