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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Kobe J Med Sci
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Kobe University School Of Medicine 2019
विषय:
Articles
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012194/
https://ncbi.nlm.nih.gov/pubmed/31956256
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन