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proteín prežívania motorického neurónu 1

  1. Subject h.proteín prežívania motorického neurónu 1
    Subject h.Survival of Motor Neuron 1 Protein
    Entry termsSMN proteín 1
    SMN proteín (spinálna svalová atrofia)
    proteín prežívania motorického neurónu 1, telomerický
    Scope note in EnglishAn 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.
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    (1) - CiBaMed
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