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Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations

Mutations in the actin motor protein myosinVb (myo5b) cause aberrant apical cargo transport and the congenital enteropathy microvillus inclusion disease (MVID). Recently, missense mutations in myo5b were also associated with progressive familial intrahepatic cholestasis (MYO5B-PFIC). Here, we thorou...

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Detalles Bibliográficos
Autores principales: Hess, Michael W., Krainer, Iris M., Filipek, Przemyslaw A., Witting, Barbara, Gutleben, Karin, Vietor, Ilja, Zoller, Heinz, Aldrian, Denise, Sturm, Ekkehard, Goldenring, James R., Janecke, Andreas R., Müller, Thomas, Huber, Lukas A., Vogel, Georg F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125609/
https://www.ncbi.nlm.nih.gov/pubmed/33924896
http://dx.doi.org/10.3390/jcm10091901

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