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A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review
BACKGROUND: The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS patients...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719243/ https://www.ncbi.nlm.nih.gov/pubmed/36463227 http://dx.doi.org/10.1186/s12920-022-01399-2 |