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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Bäumer, D, Parkinson, N, Talbot, K
स्वरूप: Journal article
भाषा:English
प्रकाशित: 2009