1 | MVID, MYO5B
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| Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
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| Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA.
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| Hum Mutat 31(5):544-51.
2010
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2 | MVID, MYO5B
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| MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
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| Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR.
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| Nat Genet 40(10):1163-5. Epub 2008 Aug 24.
2008
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3 | MVID, MYO5B
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| Navajo microvillous inclusion disease is due to a mutation in MYO5B.
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| Erickson RP, Larson-Thomé K, Valenzuela RK, Whitaker SE, Shub MD.
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| Am J Med Genet A 146A(24):3117-9.
2008
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