TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation.

BACKGROUND: Mutations in the gene encoding TDP-43 have been identified in both familial and sporadic amyotrophic lateral sclerosis (ALS). METHODS: A mutation screen and copy number analysis in a motor neuron disease clinic cohort was conducted to characterise the genetic contribution of TARDBP. RES...

書誌詳細
主要な著者:	Bäumer, D, Parkinson, N, Talbot, K
フォーマット:	Journal article
言語:	English
出版事項:	2009

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