Article
Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations.
Genetic testing and molecular biomarkers - 1 Oct 2011
Morikawa Satoru, Harahap Indra Sari Kusuma, Kaszynski Richard Hideki, Yamamoto Tomoto, Pramudya Dian Kesuma, Pham Huyen Thi Van, Hartomo Tri Budi, Lee Myeong Jin, Morioka Ichiro, Nishimura Noriyuki, Yokoyama Naoki, Ueno Yasuhiro, Matsuo Masafumi, Nishio Hisahide
Abstract excerpt
AIM: Spinal muscular atrophy (SMA) is a well-defined autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. The most frequently observed mutation is a deletion of exon 7, which has been documented in >95% of SMA patients. A novel technique for detecting mutations known as high-resolution melting analysis (HRMA) has rapidly become the tool of choice for screening...
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