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

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

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...

Full description

Bibliographic Details
Main Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao, Ming Sang
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Hereditary spherocytosis
Whole-exome sequencing
ANK1
Nonsense mutation
Online Access:http://link.springer.com/article/10.1186/s12881-020-01161-4

Internet

http://link.springer.com/article/10.1186/s12881-020-01161-4

Similar Items