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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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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