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
Hauptverfasser:	Mazzei, Rosalucia, Conforti, Francesca Luisa, Muglia, Maria, Sprovieri, Teresa, Patitucci, Alessandra, Magariello, Angela, Lia Gabriele, Anna, Quattrone, Aldo
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromatography, High Pressure Liquid - methods Chromosome Aberrations Cyclic AMP Response Element-Binding Protein Gene Deletion Genes, Recessive - genetics Humans Nerve Tissue Proteins - genetics Nucleic Acid Denaturation - genetics Reproducibility of Results Retrospective Studies RNA-Binding Proteins Sensitivity and Specificity SMN Complex Proteins Spinal Muscular Atrophies of Childhood - diagnosis Spinal Muscular Atrophies of Childhood - genetics Time Factors
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