Article
Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex
1 Dec 1998
Abstract excerpt
Mutations in the gene encoding the Survival Motor Neuron (SMN) protein are responsible for autosomal recessive proximal spinal muscular atrophy (SMA). SMN orthologues have been identified in the nematode worm Caenorhabditis elegans and the yeast Schizosaccharomyces pombe but, to date, no human paralogues have been described. Here we describe identification and characterization of an SMN-related protein (SMNrp)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
