Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease

OBJECTIVES: Microvillus inclusion disease (MVID) is a rare autosomal recessive enteropathy characterized by intractable diarrhea and malabsorption. Recently, various MYO5B gene mutations have been identified in MVID patients. Interestingly, several MVID patients showed only a MYO5B mutation in one a...

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Main Authors: Szperl, Agata M., Golachowska, Magdalena R., Bruinenberg, Marcel, Prekeris, Rytis, Thunnissen, Andy-Mark W. H., Karrenbeld, Arend, Dijkstra, Gerard, Hoekstra, Dick, Mercer, David, Ksiazyk, Janusz, Wijmenga, Cisca, Wapenaar, Martin C., Rings, Edmond H. H. M., van IJzendoorn, Sven C. D.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058815/
https://ncbi.nlm.nih.gov/pubmed/21206382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0b013e3181eea177
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