Article
Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein.
Human molecular genetics - 22 Mar 2000
Owen N, Doe C L, Mellor J, Davies K E
Abstract excerpt
Childhood onset spinal muscular atrophy (SMA) is a common autosomal recessive disorder primarily characterized by the loss of lower alpha motor neurons. The underlying chromosomal defects causing SMA have been found in the survival motor neuron (SMN) gene. SMN has been shown previously to play a role in both snRNP biogenesis and mRNA processing, although direct evidence for the relationship between SMN and...
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