Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy

Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic...

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Veröffentlicht in:	Indian journal of medical research (New Delhi, India : 1994) India : 1994), 2012, Vol.135 (1), p.31-35
Hauptverfasser:	Marini, M, Sasongko, T H, Watihayati, M S, Atif, A B, Hayati, F, Zabidi-Hussin, Z A M H, Ravichandran, M, Nishio, H, Zilfalil, B A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Allelomorphism Child Cost analysis Deoxyribonucleic acid Diagnosis DNA Efficiency Enzymes Exons Female Genes Genetic aspects Health aspects Health Care Costs Humans Male Methods Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - pathology Neuromuscular diseases Original Physiological aspects Polymerase chain reaction Polymerase Chain Reaction - methods Sequence Deletion Spinal muscular atrophy Survival of Motor Neuron 1 Protein - blood Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - blood Survival of Motor Neuron 2 Protein - genetics
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