Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infan...

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Autores principales: Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7865828/
https://www.ncbi.nlm.nih.gov/pubmed/33525641
http://dx.doi.org/10.3390/jcm10030481

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