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...

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Hlavní autoři:	Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao, Ming Sang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2020-11-01
Edice:	BMC Medical Genetics
Témata:	Hereditary spherocytosis Whole-exome sequencing ANK1 Nonsense mutation
On-line přístup:	http://link.springer.com/article/10.1186/s12881-020-01161-4
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