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

BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects 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 using dried blood sp...

Full description

Saved in:
Bibliographic Details
Published in:Kobe J Med Sci
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Kobe University School Of Medicine 2019
Subjects:
Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012194/
https://ncbi.nlm.nih.gov/pubmed/31956256
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items