Article
SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.
Liver international : official journal of the International Association for the Study of the Liver - 1 Nov 2017
Joly Philippe, Lachaux Alain, Ruiz Mathias, Restier Lioara, Belmalih Abdelhouaed, Chapuis-Cellier Colette, Francina Alain, Renoux Céline, Bouchecareilh Marion
Abstract excerpt
BACKGROUND & AIMS: Fifteen to twenty percent of alpha-1 antitrypsin deficiency patients (A1ATD) have a severe liver outcome (portal hypertension - PHT) during childhood. Since they all share the same ZZSERPINA1 genotype and that environmental factors such as alcohol cannot be advanced, the presence of modifier genes is now well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already been tested in...
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