Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations

BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not...

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Foilsithe in:Gastroenterology
Main Authors: Andersson, Emma R., Chivukula, Indira V., Hankeova, Simona, Sjöqvist, Marika, Tsoi, Yat Long, Ramsköld, Daniel, Masek, Jan, Elmansuri, Aiman, Hoogendoorn, Anita, Vazquez, Elenae, Storvall, Helena, Netušilová, Julie, Huch, Meritxell, Fischler, Björn, Ellis, Ewa, Contreras, Adriana, Nemeth, Antal, Chien, Kenneth C., Clevers, Hans, Sandberg, Rickard, Bryja, Vitezslav, Lendahl, Urban
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2018
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7007299/
https://ncbi.nlm.nih.gov/pubmed/29162437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2017.11.002
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