Φορτώνει......
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
OBJECTIVE: Assessment of SMN2 copy number in patients with spinal muscular atrophy (SMA) is essential to establish careful genotype-phenotype correlations and predict disease evolution. This issue is becoming crucial in the present scenario of therapeutic advances with the perspective of SMA neonata...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurol Genet |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7713720/ https://ncbi.nlm.nih.gov/pubmed/33324756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000530 |
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