Article
FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Mar 2011
Syriani Enrique, Morales Miguel, Gamez Josep
Abstract excerpt
Our objective was to investigate the prevalence of FUS/TLS mutations in a Catalan familial ALS cohort undergoing a mutational study for SOD1 in 2006. We screened 25 probands from non-SOD1 families for FUS/TLS mutations. We identified two FALS probands with FUS/TLS mutations. One carried a C-to-T transition at nucleotide position 1561 (c.1561C>T) producing a p.R521C sequence change at protein level. The phenotype...
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