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ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population

Bile salts are natural detergents required to solubilise dietary fat and lipid soluble vitamins. They are synthesised in hepatocytes and secreted into the luminal space of the biliary tree by the bile salt export pump (BSEP), an ATP-binding cassette (ABC) transporter in the canalicular membrane. BSE...

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Detalles Bibliográficos
Autores principales: Andress, Edward J., Nicolaou, Michael, McGeoghan, Farrell, Linton, Kenneth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487885/
https://www.ncbi.nlm.nih.gov/pubmed/28220208
http://dx.doi.org/10.1007/s00018-017-2472-6