To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal ...To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal cord.⑴A genetically similar gene,SMN2,has a translationally silent C-to-T transition at Position 6 in its 7th exon that causes only 10%correctly spliced full-length and functional SMN protein via alternative splicing.展开更多
基金grants from the National Natural Science Foundation of China(Nos.81771230,U1905210)the Joint Funds for the Innovation of Science and Technology of Fujian Province(Nos.2017Y9094 and 2018Y9082)the National Key Clinical Specialty Discipline Construction Program,the Key Clinical Specialty Discipline Construction Program of Fujian,and the Startup Fund for Scientific Research of Fujian Medical University(Nos.2018QH1050 and 2018QH2035).
文摘To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal cord.⑴A genetically similar gene,SMN2,has a translationally silent C-to-T transition at Position 6 in its 7th exon that causes only 10%correctly spliced full-length and functional SMN protein via alternative splicing.
