A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review

Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two families of RBC membrane disorders in Taiwanese, one was...

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Detalles Bibliográficos
Autores principales: Shih, Yu-Hung, Huang, Ying-Chih, Lin, Ching-Yeh, Lin, Hsuan-Yu, Kuo, Su-Feng, Lin, Jen-Shiou, Shen, Ming-Ching
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
4800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875991/
https://www.ncbi.nlm.nih.gov/pubmed/36705355
http://dx.doi.org/10.1097/MD.0000000000032708

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