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pro vyhledávání: '"Debbie C.P. Lee"'
Autor:
Mimoun Azzouz, Umrao R. Monani, G. Scott Ralph, Fraser J. Wilkes, Debbie C.P. Lee, Susan M. Kingsman, Lucy E. Walmsley, Arthur H.M. Burghes, Kyriacos A. Mitrophanous, Nicholas D. Mazarakis, Thanh Le
Publikováno v:
Journal of Clinical Investigation. 114:1726-1731
Spinal muscular atrophy (SMA) is a frequent recessive autosomal disorder. It is caused by mutations or deletion of the telomeric copy of the survival motor neuron (SMN) gene, leading to depletion in SMN protein levels. The treatment rationale for SMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8203d3554a255d105539071a8bc9d16f
https://doi.org/10.1172/jci22922
https://doi.org/10.1172/jci22922
