Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1

By Alvarez Luis  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2451-2460

Oxford University Press

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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 891-893

John Wiley & Sons Inc

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A mouse model for α-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids

By Savolainen Kalle   Kotti Tiina J.   Schmitz Werner   Savolainen Teuvo I.   Sormunen Raija T.   Ilves Mika   Vainio Seppo J.   Conzelmann Ernst   Hiltunen J. Kalervo  

Human Molecular Genetics, Vol. 13, Iss. 9, 2004-05 ,pp. : 955-965

Oxford University Press

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A new mouse model for the trisomy of the Abcg1 U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

By Pereira Patricia Lopes   Magnol Laetitia   Sahn Ignasi   Brault Vronique   Duchon Arnaud   Prandini Paola   Gruart Agns   Bizot Jean-Charles   Chadefaux-Vekemans Bernadette   Deutsch Samuel   Trovero Fabrice   Delgado-Garca Jos Mara   Antonarakis Stylianos E.   Dierssen Mara   Herault Yann  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4756-4769

Oxford University Press

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Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca 2+ pump

By Sudbrak Ralf  

Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1131-1140

Oxford University Press

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