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Publication date	- (ex : 2010-2015)

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Academic Journal

Klomp, Leo W. J.; Vargas, Julie C.; van Mil, Saskia W. C.; Pawlikowska, Ludmila; Strautnieks, Sandra S.; van Eijk, Michiel J. T.; Juijn, Jenneke A.; Pabón-Peña, Carlos; Smith, Lauren B.; DeYoung, Joseph A.; Byrne, Jane A.; Gombert, Justijn; van der Brugge, Gerda; Berger, Ruud; Jankowska, Irena; Pawlowska, Joanna; Villa, Erica; Knisely, A. S.; Thompson, Richard J.; Freimer, Nelson B.

Hepatology (02709139); Jul2004, Vol. 40 Issue 1, p27-38, 12p

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

A missense mutation in FIC1 is associated with greenland familial cholestasis.

Academic Journal

Klomp, Leo W. J.; Bull, Laura N.; Knisely, Alexander S.; van der Doelen, Marjolein A. M.; Juijn, Jenneke A.; Berger, Ruud; Forget, Sylviane; Nielsen, Inge-Merete; Eiberg, Hans; Houwen, Roderick H. J.

Hepatology (02709139); Dec2000, Vol. 32 Issue 6, p1337-1341, 5p

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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

Academic Journal

Bull, Laura N.; Juijn, Jenneke A.; Liao, Mira; van Eijk, Michiel J. T.; Sinke, Richard J.; Stricker, Nicole L.; DeYoung, Joseph A.; Carlton, Victoria E. H.; Baharloo, Siamak; Klomp, L. W. J.; Abukawa, Daiki; Barton, David E.; Bass, Nathan M.; Bourke, Billy; Drumm, Brendan; Jankowska, Irena; Lovisetto, Piero; McQuaid, Shirley; Pawlowska, Joanna; Tazawa, Yusaku

Human Genetics; Apr1999, Vol. 104 Issue 3, p241-248, 8p

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Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.

Academic Journal

Sinke, Richard J.; Carlton, Victoria E. H.; Juijn, Jenneke A.; Delhaas, Tammo; Bull, Laura; Henegouwen, Gerard P. Berge; van Hattum, Jan; Keller, Klaus M.; Sinaasappel, Maarten; Bijleveld, Charles M. A.; Knol, I. E.; van Amstel, Hans-Kristian Ploos; Pearson, Peter L.; Berger, Ruud; Freimer, Nelson B.; Houwen, Roderick H. J.

Human Genetics; Aug1997, Vol. 100 Issue 3/4, p382-387, 6p

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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

Academic Journal

Bull, Laura N.; van Eijk, Michiel J.T.; Pawlikowska, Ludmila; DeYoung, Joseph A.; Juijn, Jenneke A.; Liao, Mira; Klomp, Leo W.J.; Lomri, Noureddine; Berger, Ruud; Scharschmidt, Bruce R.; Knisely, Alexander S.; Houwen, Roderick H.J.; Freimer, Nelson B.

Nature Genetics; Mar1998, Vol. 18 Issue 3, p219-224, 6p

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The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself

Periodical

KLOMP, Adriana E.M.; JUIJN, Jenneke A.; GUN, Linda T.M. van der; BERG, Inge E.T. van den; BERGER, Ruud; KLOMP, Leo W.J.

Biochemical Journal; March 2003, Vol. 370 Issue: 3 p881-889, 9p

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Recurrent familial intrahepatic cholestasis in the faeroe islands. phenotypic heterogeneity but genetic homogeneity.

Academic Journal

Tygstrup, Niels; Steig, Bjarni Á.; Juijn, Jenneke A.; Bull, Laura N.; Houwen, Roderick H.

Hepatology (02709139); Feb1999, Vol. 29 Issue 2, p506-508, 3p

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A missense mutation in F1C1 is associated with Greenland familial cholestasis

Electronic Resource

Klomp, Leo W.J.; Bull, Laura N.; Knisely, Alexander S.; van der Doelen, M.A.M.; Juijn, Jenneke A.; Berger, R.; Forget, S.; Nielsen, Inge-Merete; Eiberg, Hans Rudolf Lytchoff; Houwen, Roderick H.J.

Klomp , L W J , Bull , L N , Knisely , A S , van der Doelen , M A M , Juijn , J A , Berger , R , Forget , S , Nielsen , I-M , Eiberg , H R L & Houwen , R H J 2000 , ' A missense mutation in F1C1 is associated with Greenland familial cholestasis ' , Hepatology , no. Vol.32 , pp. 1337-1341 .

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