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Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report
The present study describes the clinical profile and ankyrin 1 (ANK1) mutation status of a Chinese family with hereditary spherocytosis (HS). A young male patient (proband) was diagnosed with HS after presenting with anaemia and jaundice. The Coombs test was negative and spherocytes were found in pe...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748711/ https://www.ncbi.nlm.nih.gov/pubmed/36561627 http://dx.doi.org/10.3892/etm.2022.11704 |