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Article

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2023

Singer Amihood, Aartsma-Rus Annemieke, Grinshpun-Cohen Julia, Sagi-Dain Lena

Abstract excerpt

PURPOSE: To summarize the results of first year implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and present the ensuing challenges. METHODS: Data acquisition for this study was performed by retrospective search of Ministry of Health registry for reports of all laboratories performing genetic screening tests. DMD testing was performed by multiplex ligation-dependent probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37712502
DOI: 10.1016/j.gim.2023.100981

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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