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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

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Title: Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Authors: Strafella, Claudia1 (AUTHOR), Megalizzi, Domenica1,2 (AUTHOR), Trastulli, Giulia1,3 (AUTHOR), Proietti Piorgo, Emma1 (AUTHOR), Colantoni, Luca1 (AUTHOR), Tasca, Giorgio4 (AUTHOR), Monforte, Mauro5 (AUTHOR), Zampatti, Stefania1 (AUTHOR), Primiano, Guido6 (AUTHOR), Sancricca, Cristina6 (AUTHOR), Bortolani, Sara5 (AUTHOR), Torchia, Eleonora5 (AUTHOR), Ravera, Beatrice5 (AUTHOR), Torri, Francesca7 (AUTHOR), Gadaleta, Giulio8 (AUTHOR), Risi, Barbara9 (AUTHOR), Caria, Filomena9 (AUTHOR), Gerardi, Francesca10 (AUTHOR), Carraro, Elena10 (AUTHOR), Gioiosa, Valeria11 (AUTHOR)
Source: Clinical Epigenetics. 10/22/2024, Vol. 16 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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ISSN:18687075
DOI:10.1186/s13148-024-01747-2