Article
A rare variant of α 1 antitrypsin mutations detected in Vietnamese children with liver disease.
Annals of clinical biochemistry - 1 Jul 2013
Hoàng Thu Hà, Phạm Thiên Ngọc, Nguyễn Gia Khánh, Lê Quang Huấn
Abstract excerpt
BACKGROUND: Alpha 1 antitrypsin (A1AT) is the major plasma serine protease inhibitor that is produced in liver cells. A1AT deficiency is recognized globally as a common genetic cause of liver disease in children, which results from mutations in the SERine Protease INhibitor A1 (SERPINA1) gene. The importance of A1AT deficiency in Viet Nam is unclear. The aim of this study was to determine the A1AT variants...
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