Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China
Chenlu Jia, Dehua Zhao, Yanru Li, Yanbo Gao, Xiaoli Zhang, Xiaole Li, Shubo Lv, Runqing Li, Xinyun Zhu, Suna Liu
Topics & Concepts
Multiplex ligation-dependent probe amplificationDuchenne muscular dystrophyExonSanger sequencingMissense mutationNewborn screeningMolecular biologyDried blood spotMuscular dystrophyPoint mutationCreatine kinaseBiologyGenotypemdx mouseGeneticsCompound heterozygosityMutationMedicineGeneDystrophinEndocrinologyMuscle Physiology and DisordersGenetics and Physical PerformanceCardiomyopathy and Myosin Studies