New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion

BACKGROUND: Spinal muscular atrophy (SMA) is a frequent autosomal recessive disorder, characterized by lower motor neuron loss in the spinal cord. More than 95% of SMA patients show homozygous survival motor neuron 1 (SMN1) deletion. We previously developed a screening system for SMN1 deletion based...

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Publicado en:Kobe J Med Sci
Autores principales: SHINOHARA, MASAKAZU, ROCHMAH, MAWADDAH AR, NAKANISHI, KENTA, HARAHAP, NUR IMMA FATIMAH, NIBA, EMMA TABE EKO, SAITO, TOSHIO, SAITO, KAYOKO, TAKEUCHI, ATSUKO, BOUIKE, YOSHIHIRO, NISHIO, HISAHIDE
Formato: Artigo
Lenguaje:Inglês
Publicado: Kobe University School Of Medicine 2017
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5826017/
https://ncbi.nlm.nih.gov/pubmed/29434172
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