Article
Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2016
Vats Abhishek, Gourie-Devi Mandaville, Verma Meenakshi, Ramachandran Srinivasan, Taneja Bhupesh, Kukreti Ritushree, Taneja Vibha
Abstract excerpt
Mutations in the superoxide dismutase (SOD1) gene account for ∼15% and in the transactive response DNA binding protein (TARDBP) gene for ∼5% of familial amyotrophic lateral sclerosis (FALS) cases. These two genes were analysed in two siblings from North India with ALS and a positive family history. The coding region of SOD1 and TARDBP genes was sequenced in both siblings. Genetic variation identified in SOD1 was...
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