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Large deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier… Click to show full abstract
Large deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in a cohort of women screened for DMD carrier status and analyzed screening efficacy and challenges related to DMD population screening.
Keywords:
population screening;
duchenne muscular;
muscular dystrophy;
large scale
Journal Title: Prenatal Diagnosis
Year Published: 2022
Link to full text (if available)
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Journal Title: Prenatal Diagnosis
Year Published: 2022
Link to full text (if available)
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recommendations!