Article
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Journal of pediatric gastroenterology and nutrition - 1 Mar 2011
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
Abstract excerpt
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 patients with MVID. Interestingly, several patients with MVID showed only a MYO5B mutation in 1 allele (heterozygous) or no mutations in the MYO5B gene, illustrating the need to further functionally...
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