Robust quantification of the SMN gene copy number by real-time TaqMan PCR
نویسندگان
چکیده
منابع مشابه
A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused, in about 95% of SMA cases, by homozygous deletion of the survival motor neuron 1 (SMN1) gene or its conversion to the highly homologous SMN2 gene. The molecular diagnosis of SMA is usually carried out by a PCR-Restriction fragment length polymorphism (RFLP) approach. However, this approach is not useful for identification o...
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ژورنال
عنوان ژورنال: neurogenetics
سال: 2009
ISSN: 1364-6745,1364-6753
DOI: 10.1007/s10048-009-0181-5