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Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes ANK1 (Spherocytos...

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Detalles Bibliográficos
Autores principales:	Tian, Yafei, Wang, Yao, Yang, Jingmin, Gao, Pengfei, Xu, Hui, Wu, Yiming, Li, Mengru, Chen, Hongyan, Lu, Daru, Yan, Hongli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545875/ https://www.ncbi.nlm.nih.gov/pubmed/37795245 http://dx.doi.org/10.3389/fgene.2023.1221853

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