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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....
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| Publicat a: | Medicine (Baltimore) |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer Health
2018
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| Matèries: | |
| Accés en línia: | 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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