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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Vydáno v:J Clin Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8125609/
https://ncbi.nlm.nih.gov/pubmed/33924896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10091901
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