Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype
Xuechao Zhao, Yanhong Wang, Shiyue Mei, Chen Chen, Lina Liu, Conghui Wang, Ganye Zhao, Xiangdong Kong
Topics & Concepts
SMN1Spinal muscular atrophyGeneticsBiologyMultiplex ligation-dependent probe amplificationPoint mutationSMA*MutationMissense mutationCompound heterozygosityAlleleGeneExonMathematicsCombinatoricsNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCongenital Anomalies and Fetal Surgery