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Original research
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
- Correspondence to Professor Francesco Danilo Tiziano, Section of Genomic Medicine, Department of Life Sciences and Public Health, Universita Cattolica del Sacro Cuore Facolta di Medicina e Chirurgia, Roma 1 – 00168, Italy; francescodanilo.tiziano{at}unicatt.it
Citation
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Publication history
- Received August 12, 2022
- Accepted November 6, 2022
- First published November 22, 2022.
Online issue publication
June 21, 2023
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- Previous version (27 January 2023).
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© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.