Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

By Sabbagh Y.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1539-1546

Oxford University Press

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Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

By Clifford S.C.  

Human Molecular Genetics, Vol. 10, Iss. 10, 2001-05 ,pp. : 1029-1038

Oxford University Press

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Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand -glucocerebrosidase

By Blanz Judith   Groth Johann   Zachos Christina   Wehling Christina   Saftig Paul   Schwake Michael  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 563-572

Oxford University Press

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Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

By Shen Yiguo   Lee Hsien-Yang   Rawson Joel   Ojha Sunil   Babbitt Patricia   Fu Ying-Hui   Ptáček Louis J.  

Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. : 2322-2332

Oxford University Press

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Disease-associated mutations affect GPR56 protein trafficking and cell surface expression

By Jin Zhaohui   Tietjen Ian   Bu Lihong   Liu-Yesucevitz Liqun   Gaur Shantanu K.   Walsh Christopher A.   Piao Xianhua  

Human Molecular Genetics, Vol. 16, Iss. 16, 2007-08 ,pp. : 1972-1985

Oxford University Press

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