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Genetic Counseling and NGS Screening for Recessive LGMD2A Families

Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the dia...

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Detalhes bibliográficos
Publicado no:High Throughput
Main Authors: Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7349198/
https://ncbi.nlm.nih.gov/pubmed/32397577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ht9020013
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