PCR-RFLP evidences peculiarities in Spinal Muscular Atrophy among Cuban Patients

• 主要な著者: Pita Rodríguez M (著者), Zaldívar Vaillant T (著者), Zayas Guillot M (著者), Alvarez González MA (著者)
• フォーマット: 図書
• 出版事項: Journal of Neurology, Neurological Science and Disorders - Peertechz Publications, 2017-09-15.
• 主題: Short Communication
• オンライン･アクセス: Connect to this object online.

<p>Spinal Muscular Atrophy (SMA) is a lethal, autosomal recessive, neurodegenerative disorder characterized by progressive muscle weakness. SMA has an incidence of 1 in 6000-10000 live-births and a carrier frequency of 1:38-50 [1]. Previous reports describe genotype and frequency differences a...