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A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case report
The aim of the present study was to enhance the understanding of the diagnosis and treatment of neonatal hereditary spherocytosis (HS). Gene sequencing and analysis was performed for the crucial splicing signals on the exons and introns of the 302 known pathogenic genes [including ANK1, SPTAN1, SPTA...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Exp Ther Med |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
D.A. Spandidos
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7444424/ https://ncbi.nlm.nih.gov/pubmed/32855695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9062 |
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