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....

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Detalles Bibliográficos
Autores principales: Xie, Lichun, Xing, Zhihao, Li, Changgang, Liu, Si-xi, Wen, Fei-qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948326/
https://www.ncbi.nlm.nih.gov/pubmed/33706756
http://dx.doi.org/10.1186/s12920-021-00912-3

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