Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report

BACKGROUND: Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral blood. Clinical manifestations of HS are anaemia, haemolytic jaundice, and large...

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Detalles Bibliográficos
Autores principales: Chai, Senmao, Jiao, Rong, Sun, Xiaodong, Fu, Pan, Zhao, Qiang, Sang, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666488/
https://www.ncbi.nlm.nih.gov/pubmed/33187473
http://dx.doi.org/10.1186/s12881-020-01161-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666488/
https://www.ncbi.nlm.nih.gov/pubmed/33187473
http://dx.doi.org/10.1186/s12881-020-01161-4

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