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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.
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. Ruemmele FM, et al. Among authors: schmitz j. Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224. Hum Mutat. 2010. PMID: 20186687
Microvillous inclusion disease (microvillous atrophy).
Ruemmele FM, Schmitz J, Goulet O. Ruemmele FM, et al. Among authors: schmitz j. Orphanet J Rare Dis. 2006 Jun 26;1:22. doi: 10.1186/1750-1172-1-22. Orphanet J Rare Dis. 2006. PMID: 16800870 Free PMC article. Review.
1,619 results