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  • Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, characterized by the loss of motor neurons in the spinal cord, leading to proximal, symetrical limb, and trunk muscle weakness. The gene implicated in SMA is the survival motor neuron gene (SMN) located on chromosome 5q13. In humans, the SMN gene is duplicated, occurrings as the telomeric (SMN1) and centromeric copy (SMN2). Both genes encode the SMN protein but due to alternative splicing the SMN2 genes produce only low levels of functional protein. Homozygous SMN1 deletions were found in ca 95% of SMA cases.
  • Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease, characterized by the loss of motor neurons in the spinal cord, leading to proximal, symetrical limb, and trunk muscle weakness. The gene implicated in SMA is the survival motor neuron gene (SMN) located on chromosome 5q13. In humans, the SMN gene is duplicated, occurrings as the telomeric (SMN1) and centromeric copy (SMN2). Both genes encode the SMN protein but due to alternative splicing the SMN2 genes produce only low levels of functional protein. Homozygous SMN1 deletions were found in ca 95% of SMA cases. (en)
Title
  • Analysis of SMN gene regions in patients with spinal muscular atrophy
  • Analysis of SMN gene regions in patients with spinal muscular atrophy (en)
skos:prefLabel
  • Analysis of SMN gene regions in patients with spinal muscular atrophy
  • Analysis of SMN gene regions in patients with spinal muscular atrophy (en)
skos:notation
  • RIV/00216224:14310/05:00014853!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 512108
http://linked.open...ai/riv/idVysledku
  • RIV/00216224:14310/05:00014853
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • SMA; SMN1; SMN2; copy number (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...ontrolniKodProRIV
  • [00AC1793BD6B]
http://linked.open...v/mistoKonaniAkce
  • Oslo
http://linked.open...i/riv/mistoVydani
  • Oslo
http://linked.open...i/riv/nazevZdroje
  • Functional genomics and disease
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...iv/tvurceVysledku
  • Fajkusová, Lenka
  • Gaillyová, Renata
  • Vondráček, Petr
  • Zapletalová, Eva
http://linked.open...vavai/riv/typAkce
http://linked.open.../riv/zahajeniAkce
http://linked.open...n/vavai/riv/zamer
issn
  • 1351-5101
number of pages
http://purl.org/ne...btex#hasPublisher
  • Neuveden
http://localhost/t...ganizacniJednotka
  • 14310
is http://linked.open...avai/riv/vysledek of
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