Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges

OBJECTIVE: 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 carri...

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Detalles Bibliográficos
Autores principales: Cohen, Gal, Shtorch‐Asor, Atalia, Ben‐Shachar, Shay, Goldfarb‐Yaacobi, Racheli, Kaiser, Meirav, Rosenfeld, Revital, Vinovezky, Mika, Irge, Dana, Furman, Yael, Reiss, Dafni, Litz‐Philipsborn, Shira, Sukenik‐Halevy, Rivka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546335/
https://www.ncbi.nlm.nih.gov/pubmed/35751502
http://dx.doi.org/10.1002/pd.6201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546335/
https://www.ncbi.nlm.nih.gov/pubmed/35751502
http://dx.doi.org/10.1002/pd.6201

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