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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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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3460747/ https://ncbi.nlm.nih.gov/pubmed/22985072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-12-93 |
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