Article
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
Clinical genetics - 1 Sept 2017
McCann E P, Williams K L, Fifita J A, Tarr I S, O'Connor J, Rowe D B, Nicholson G A, Blair I P
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing...
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