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Survival of Motor Neuron 1 Protein  

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Tipo

  • mesh:Descriptor

Definición

  • An SMN complex protein that contains a TUDOR DOMAIN and is essential for the function of the SMN protein complex. In humans, the protein is encoded by a single gene found near the inversion TELOMERE of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.

Concepto genérico

Etiquetas alternativas

  • SMN Protein (Spinal Muscular Atrophy)
  • Survival Motor Neuron Protein 1
  • Survival of Motor Neuron 1, Telomeric Protein

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-NVLQ100C-7

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RDF/XML TURTLE JSON-LD Creado 8/7/08, última modificación 27/5/16