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

• Egile Nagusiak: Senmao Chai (Egilea), Rong Jiao (Egilea), Xiaodong Sun (Egilea), Pan Fu (Egilea), Qiang Zhao (Egilea), Ming Sang (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract 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, a...