6 results for author:"Houwen R.H.J." in Literature citations
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| Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. van Mil S.W.C., van der Woerd W.L., van der Brugge G., Sturm E., Jansen P.L.M., Bull L.N., van den Berg I.E.T., Berger R., Houwen R.H.J., Klomp L.W.J. Gastroenterology 127:379-384(2004) · UniProtKB (1) · Mapped (4) |
| Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Klomp L.W.J., Vargas J.C., van Mil S.W.C., Pawlikowska L., Strautnieks S.S., van Eijk M.J.T., Juijn J.A., Pabon-Pena C., Smith L.B., DeYoung J.A. et al. Hepatology 40:27-38(2004) · UniProtKB (1) |
| Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Gissen P., Johnson C.A., Morgan N.V., Stapelbroek J.M., Forshew T., Cooper W.N., McKiernan P.J., Klomp L.W.J., Morris A.A.M., Wraith J.E. et al. |
| A missense mutation in FIC1 is associated with Greenland familial cholestasis. Klomp L.W.J., Bull L.N., Knisely A.S., van Der Doelen M.A., Juijn J.A., Berger R., Forget S., Nielsen I.-M., Eiberg H., Houwen R.H.J. Hepatology 32:1337-1341(2000) · UniProtKB (1) |
| Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Tygstrup N., Steig B.A., Juijn J.A., Bull L.N., Houwen R.H.J. Hepatology 29:506-508(1999) · UniProtKB (1) |
| A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Bull L.N., van Eijk M.J.T., Pawlikowska L., DeYoung J.A., Juijn J.A., Liao M., Klomp L.W.J., Lomri N., Berger R., Scharschmidt B.F. et al. |