Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report

BACKGROUND: Hereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the ANK1 gene. CASE SUMMARY: A 4-mo-old girl was admitted to our...

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Detalles Bibliográficos
Autores principales: Fu, Pan, Jiao, Yang-Yang, Chen, Kai, Shao, Jing-Bo, Liao, Xue-Lian, Yang, Jing-Wei, Jiang, Sha-Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198851/
https://www.ncbi.nlm.nih.gov/pubmed/35801015
http://dx.doi.org/10.12998/wjcc.v10.i15.4923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198851/
https://www.ncbi.nlm.nih.gov/pubmed/35801015
http://dx.doi.org/10.12998/wjcc.v10.i15.4923

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