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Journal article

Characterization of the Schizosaccharomyces pombe orthologue of the human survival motor neuron (SMN) protein.

Abstract:

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 disease pathology has not been elucidated. SMN orthologues have been isolated in many s...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/9.5.675

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Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
Role:
Author
Journal:
Human molecular genetics
Volume:
9
Issue:
5
Pages:
675-684
Publication date:
2000-03-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:24daa77d-b723-4144-a59e-757ddacb275f
Source identifiers:
101175
Local pid:
pubs:101175

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