Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

By Saleem Ramsey A.  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 2993-3005

Oxford University Press

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

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

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Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

By Lupo Vincenzo   Galindo Mximo I.   Martnez-Rubio Dolores   Sevilla Teresa   Vlchez Juan J.   Palau Francesc   Espins Carmen  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4603-4614

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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

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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

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