High-throughput screening reveals novel mutations in spinal muscular atrophy patients

• Egile Nagusiak: Ruiping Zhang (Egilea), Chunyu Gu (Egilea), Linjie Pu (Egilea), Yingtao Meng (Egilea), Jianbo Shu (Egilea), Chunquan Cai (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. Methods Eighty-three whole blood samples were collec...