SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA

BACKGROUND: Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders. The symptoms are caused by defects of lower motor neurons in the spinal cord. More than 95% of SMA patients are homozygous for survival motor neuron 1 (SMN1) deletion. We previously developed a screeni...

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Udgivet i:Kobe J Med Sci
Main Authors: NIBA, EMMA TABE EKO, ROCHMAH, MAWADDAH AR, HARAHAP, NUR IMMA FATIMAH, AWANO, HIROYUKI, MORIOKA, ICHIRO, IIJIMA, KAZUMOTO, SAITO, TOSHIO, SAITO, KAYOKO, TAKEUCHI, ATSUKO, LAI, POH SAN, BOUIKE, YOSHIHIRO, NISHIO, HISAHIDE, SHINOHARA, MASAKAZU
Format: Artigo
Sprog:Inglês
Udgivet: Kobe University School Of Medicine 2017
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5826024/
https://ncbi.nlm.nih.gov/pubmed/29434179
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