A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography
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...
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Veröffentlicht in: | Journal of child neurology 2003-04, Vol.18 (4), p.269-271 |
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Sprache: | eng |
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Zusammenfassung: | 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. (J Child Neurol 2003;18:269—271). |
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ISSN: | 0883-0738 1708-8283 |
DOI: | 10.1177/08830738030180041301 |