A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography. (Articolo in rivista)

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Label
  • A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • Mazzei R,1; Conforti FL,1; Muglia M,1; Sprovieri T,1; Patitucci A,1; Magariello A,1; Gabriele AL,1; Quattrone A.1-2 (2003)
    A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.
    in Journal of child neurology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Mazzei R,1; Conforti FL,1; Muglia M,1; Sprovieri T,1; Patitucci A,1; Magariello A,1; Gabriele AL,1; Quattrone A.1-2 (literal)
Pagina inizio
  • 269 (literal)
Pagina fine
  • 271 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 18 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Titolo
  • A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography. (literal)
Abstract
  • Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific. (literal)
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