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Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature
BACKGROUND: To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations result in HS, including mutations in ANK1....
Tallennettuna:
| Julkaisussa: | BMC Med Genomics |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2021
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7948326/ https://ncbi.nlm.nih.gov/pubmed/33706756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00912-3 |
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