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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron: Bäumer, D, Parkinson, N, Talbot, K
Fformat: Journal article
Iaith:English
Cyhoeddwyd: 2009