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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 hepatocellula...

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Detalles Bibliográficos
Autores principales: Grove, Jane I., Lo, Peggy C.K., Shrine, Nick, Barwell, Julian, Wain, Louise V., Tobin, Martin D., Salter, Andrew M., Borkar, Aditi N., Cuevas-Ocaña, Sara, Bennett, Neil, John, Catherine, Ntalla, Ioanna, Jones, Gabriela E., Neal, Christopher P., Thomas, Mervyn G., Kuht, Helen, Gupta, Pankaj, Vemala, Vishwaraj M., Grant, Allister, Adewoye, Adeolu B., Shenoy, Kotacherry T., Balakumaran, Leena K., Hollox, Edward J., Hannan, Nicholas R.F., Aithal, Guruprasad P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362796/
https://www.ncbi.nlm.nih.gov/pubmed/37484212
http://dx.doi.org/10.1016/j.jhepr.2023.100764