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).
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
Mazzei R;Conforti FL;Muglia M;Sprovieri T;Patitucci A;Magariello A;Gabriele AL;Quattrone A
2003
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. (J Child Neurol 2003;18:269-271).File in questo prodotto:
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Descrizione: A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
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