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

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 b...

Source: BMC Medical Genetics - November 13, 2020 Category: Genetics & Stem Cells Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang Tags: Case report Source Type: research