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Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family
RATIONALE: Hereditary spherocytosis (HS) is an inherited disorder characterized by the presence of spherical-shaped red blood cells (RBCs) on the peripheral blood (PB) smear. To date, a number of mutations in 5 genes have been identified and the mutations in SPTB gene account for about 20% patients....
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Medicine (Baltimore) |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer Health
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5779785/ https://ncbi.nlm.nih.gov/pubmed/29505016 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000009677 |
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