Article
A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children.
Journal of pediatric gastroenterology and nutrition - 1 Sept 2021
Joly Philippe, Ruiz Mathias, Garin Roman, Karatas Esra, Lachaux Alain, Restier Lioara, Belmalih Abdelouahed, Renoux Céline, Lombard Christine, Dechomet Magali, Bouchecareilh Marion
Abstract excerpt
ABSTRACT: The presence of modifier genes is now well recognized in severe liver disease outcome associated with alpha-1-antitrypsin deficiency (A1ATD) but their identification remains to be fully elucidated. To address this goal, we performed a candidate gene study with the SORL1 gene, already identified as risk gene in early-onset Alzheimer Disease families. A particular SORL1 micro-haplotype constituted with 3...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.