Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina

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作者： Medrano, Sofia ^[1] ; Monges, Soledad ^[2] ; Gravina, Luis Pablo ^[3] ; Alias, Laura ^[4] ; Mozzoni, Julieta ^[5] ; Araoz, Hilda Veronica ^[6] ; Bernal, Sara ; Moresco, Angelica ; Chertkoff, Lilien ; Tizzano, Eduardo

作者单位： Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Buenos Aires, DF, Argentina ^[1] Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain ^[2] Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona, Spain ^[3] Hosp Pediat Garrahan, Serv Genet, Buenos Aires, DF, Argentina ^[4] Hosp Pediat Garrahan, Serv Kinesiol, Buenos Aires, DF, Argentina ^[5] Hosp Pediat Garrahan, Serv Neurol, Buenos Aires, DF, Argentina ^[6]

关键词 Spinal muscular atrophy (SMA)Survival motor neuron 1 gene (SMN1)Survival motor neuron 2 gene (SMN2)Neuronal apoptosis inhibitory protein gene (NAIP)Small EDRK-rich factor 1A (SERFIA)Multiplex Ligation-dependent Probe Amplification (MLPA)

发布时间 2017-04-06

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