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

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, decompensation, and development of hepatocel...

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Main Authors: Jane I. Grove, Peggy C.K. Lo, Nick Shrine, Julian Barwell, Louise V. Wain, Martin D. Tobin, Andrew M. Salter, Aditi N. Borkar, Sara Cuevas-Ocaña, Neil Bennett, Catherine John, Ioanna Ntalla, Gabriela E. Jones, Christopher P. Neal, Mervyn G. Thomas, Helen Kuht, Pankaj Gupta, Vishwaraj M. Vemala, Allister Grant, Adeolu B. Adewoye, Kotacherry T. Shenoy, Leena K. Balakumaran, Edward J. Hollox, Nicholas R.F. Hannan, Guruprasad P. Aithal
Format: Article
Language:English
Published: Elsevier 2023-08-01
Series:JHEP Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589555923000952