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

Internet

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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