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Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
We report a unique mutation in the D-amino acid oxidase gene (R199W DAO) associated with classical adult onset familial amyotrophic lateral sclerosis (FALS) in a three generational FALS kindred, after candidate gene screening in a 14.52 cM region on chromosome 12q22-23 linked to disease. Neuronal ce...
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| Главные авторы: | , , , , , , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
National Academy of Sciences
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2867752/ https://ncbi.nlm.nih.gov/pubmed/20368421 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0914128107 |
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