Evaluating the performance of four assays for carrier screening of spinal muscular atrophy
Jianxin Tan, Jingjing Zhang, Ruihong Sun, Jiang Zhu, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Ying‐Chun Lin, Qinxin Zhang, Zhengfeng Xu, Ping Hu
Topics & Concepts
SMN1Multiplex ligation-dependent probe amplificationSpinal muscular atrophyExonDigital polymerase chain reactionSMA*BiologyMolecular biologyHigh Resolution MeltMultiplex polymerase chain reactionMultiplexReal-time polymerase chain reactionGeneticsGenePolymerase chain reactionCombinatoricsMathematicsNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesGenetic Neurodegenerative Diseases