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: Mitchell, John, Paul, Praveen, Chen, Han-Jou, Morris, Alex, Payling, Miles, Falchi, Mario, Habgood, James, Panoutsou, Stefania, Winkler, Sabine, Tisato, Veronica, Hajitou, Amin, Smith, Bradley, Vance, Caroline, Shaw, Christopher, Mazarakis, Nicholas D., de Belleroche, Jacqueline
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2010
Предметы:
Biological Sciences
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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