High-throughput screening reveals novel mutations in spinal muscular atrophy patients
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 ...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu and Chunquan Cai Tags: Research Source Type: research