P040 Identification and functional characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

Published: Sep 1, 2021
Abstract

Background and Aims

Non-alcoholic fatty liver disease (NAFLD) is a complex trait that has a global prevalence estimated as 25%. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, decompensation and development of hepatocellular carcinoma in the absence of common risk factors such as obesity and type 2 diabetes.

Methods

Exome sequencing and genome comparisons...
Paper Details
Title
P040 Identification and functional characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease
Published Date
Sep 1, 2021
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