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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:High Throughput
Hauptverfasser: Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2020
Schlagworte:
Communication
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge