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Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis
Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine...
Tallennettuna:
| Julkaisussa: | Mol Med Rep |
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| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
D.A. Spandidos
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5866036/ https://ncbi.nlm.nih.gov/pubmed/29484404 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.8632 |
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