Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion

BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration or loss of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN1) gene. For the screening of SMN1 deletion, it is...

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Pubblicato in:Kobe J Med Sci
Autori principali: NIBA, EMMA TABE EKO, ROCHMAH, MAWADDAH AR, HARAHAP, NUR IMMA FATIMAH, AWANO, HIROYUKI, MORIOKA, ICHIRO, IIJIMA, KAZUMOTO, TAKESHIMA, YASUHIRO, SAITO, TOSHIO, SAITO, KAYOKO, TAKEUCHI, ATSUKO, LAI, POH SAN, BOUIKE, YOSHIHIRO, MATSUO, MASAFUMI, NISHIO, HISAHIDE, SHINOHARA, MASAKAZU
Natura: Artigo
Lingua:Inglês
Pubblicazione: Kobe University School Of Medicine 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012196/
https://ncbi.nlm.nih.gov/pubmed/31956255
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