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March 1, 1997Human Molecular GeneticsOpen Access

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

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Authors

KTKevin TalbotMotor Neurone Disease AssociationChris P. PontingChris P. PontingUniversity of GenevaATAspasia TheodosiouAlexander Fleming Biomedical Sciences Research Center

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Cite This Study

Talbot et al. (1997) studied this question.

synapsesocial.com/papers/6a6faeb831a3df82432803c3https://doi.org/10.1093/hmg/6.3.497
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I1996 · 92 citations
  2. 2The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England1973 · 147 citations
  3. 3Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals1995 · 288 citations
  4. 4An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene1996 · 127 citations