A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome

Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein report a case of HS with no family history harboring a novel heterozygous mutation of SPTA1, c.2161G>A (p.E721K), and a homozygous polymorphis...

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Detalles Bibliográficos
Autores principales: Nato, Yuma, Kageyama, Yuki, Suzuki, Kazutaka, Shimojima Yamamoto, Keiko, Kanno, Hitoshi, Miyashita, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9876709/
https://www.ncbi.nlm.nih.gov/pubmed/35650129
http://dx.doi.org/10.2169/internalmedicine.9478-22

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