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pro vyhledávání: '"F. Lucy Raymond"'
Autor:
Zoya Kingsbury, Andrew J. Connell, Ryan J. Taft, Alba Sanchis-Juan, Courtney E. French, Matthew E.R. Butchbach, David R. Bentley, Aditi Chawla, Xiao Chen, Isabelle Delon, Michael A. Eberle, Aaron L. Halpern, F Lucy Raymond, Nihr BioResource
Publikováno v:
Genetics in Medicine
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0
Chen, X, Sanchis-juan, A, French, C E, Connell, A J, Delon, I, Kingsbury, Z, Chawla, A, Halpern, A L, Taft, R J, Bentley, D R, Bioresource, NIHR, Williamson, C, Butchbach, M E R, Raymond, F L, Eberle, M A & Dixon, P 2020, ' Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data ', GENETICS IN MEDICINE, vol. 22, no. 5, pp. 945-953 . https://doi.org/10.1038/s41436-020-0754-0
PurposeSpinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantif