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Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice
Hereditary spherocytosis (HS) is a common heterogeneous type of inherited hemolytic anemia characterized by jaundice and splenomegaly. Diagnosis of HS in neonates is considered unreliable, and is generally based on positive family history, spherocytes in peripheral smears, increased osmotic fragilit...
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| Publicat a: | Mol Med Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
D.A. Spandidos
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6423610/ https://ncbi.nlm.nih.gov/pubmed/30816434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.9947 |
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