Article
Does the mutation of the SERPINA1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis? preliminary study.
Developmental period medicine - 1 Jan 2000
Więcek Sabina, Woś Halina, Kordys-Darmolińska Bożena, Sankiewicz-Szkółka Magda, Grzybowska-Chlebowczyk Urszula
Abstract excerpt
UNLABELLED: Mutation of the SERPINA1 gene is present in about 2% of patients with cystic fibrosis but is more common and accounts for about 5% in patients with cystic fibrosis and co-existing liver lesions. The SERPINA1 gene is responsible for the synthesis of a serine protease inhibitor. The protein related with this gene is accumulated within the endoplasmic reticulum of hepatocytes causing their damage,...
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