The variability of SMCHD1 gene in FSHD patients: evidence of new mutations

In this study, we investigated the sequence of (Structural Maintenance of Chromosomes flexible Hinge Domain containing 1) SMCHD1 gene in a cohort of clinically defined FSHD (facioscapulohumeral muscular dystrophy) patients in order to assess the distribution of SMCHD1 variants, considering the D4Z4...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Campoli, Giulia, Bax, Cristina, Colantoni, Luca, Minozzi, Giulietta, Orsini, Chiara, Politano, Luisa, Tasca, Giorgio, Novelli, Giuseppe, Ricci, Enzo, Giardina, Emiliano, Cascella, Raffaella
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2019
Teme:
General Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6969370/
https://ncbi.nlm.nih.gov/pubmed/31600781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz239
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