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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F05%3A00014853%21RIV10-MSM-14310___
rdf:type
n10:Vysledek skos:Concept
dcterms:description
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.
dcterms:title
Analysis of SMN gene regions in patients with spinal muscular atrophy Analysis of SMN gene regions in patients with spinal muscular atrophy
skos:prefLabel
Analysis of SMN gene regions in patients with spinal muscular atrophy Analysis of SMN gene regions in patients with spinal muscular atrophy
skos:notation
RIV/00216224:14310/05:00014853!RIV10-MSM-14310___
n4:aktivita
n20:Z
n4:aktivity
Z(MSM0021622415)
n4:dodaniDat
n14:2010
n4:domaciTvurceVysledku
n7:5589797 n7:1708694 n7:3196178 n7:8248257
n4:druhVysledku
n9:D
n4:duvernostUdaju
n18:S
n4:entitaPredkladatele
n8:predkladatel
n4:idSjednocenehoVysledku
512108
n4:idVysledku
RIV/00216224:14310/05:00014853
n4:jazykVysledku
n11:eng
n4:klicovaSlova
SMA; SMN1; SMN2; copy number
n4:klicoveSlovo
n6:SMA n6:copy%20number n6:SMN1 n6:SMN2
n4:kontrolniKodProRIV
[00AC1793BD6B]
n4:mistoKonaniAkce
Oslo
n4:mistoVydani
Oslo
n4:nazevZdroje
Functional genomics and disease
n4:obor
n16:FH
n4:pocetDomacichTvurcuVysledku
4
n4:pocetTvurcuVysledku
4
n4:rokUplatneniVysledku
n14:2005
n4:tvurceVysledku
Vondráček, Petr Zapletalová, Eva Fajkusová, Lenka Gaillyová, Renata
n4:typAkce
n13:WRD
n4:zahajeniAkce
2005-09-06+02:00
n4:zamer
n17:MSM0021622415
s:issn
1351-5101
s:numberOfPages
2
n19:hasPublisher
Neuveden
n5:organizacniJednotka
14310