Article
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
Human mutation - 1 Dec 2013
van der Velde K Joeri, Dhekne Herschel S, Swertz Morris A, Sirigu Serena, Ropars Virginie, Vinke Petra C, Rengaw Trebor, van den Akker Peter C, Rings Edmond H H M, Houdusse Anne, van Ijzendoorn Sven C D
Abstract excerpt
Microvillus inclusion disease (MVID) is one of the most severe congenital intestinal disorders and is characterized by neonatal secretory diarrhea and the inability to absorb nutrients from the intestinal lumen. MVID is associated with patient-, family-, and ancestry-unique mutations in the MYO5B gene, encoding the actin-based motor protein myosin Vb. Here, we review the MYO5B gene and all currently known MYO5B...
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