Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer

By Ohgari Yoshiko  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 327-334

Oxford University Press

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Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus

By Oksche A.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 779-789

Oxford University Press

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Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR

By Royer-Zemmour Barbara   Ponsole-Lenfant Magali   Gara Hyam   Roll Patrice   Lvque Christian   Massacrier Annick   Ferracci Graldine   Cillario Jennifer   Robaglia-Schlupp Andre   Vincentelli Renaud   Cau Pierre   Szepetowski Pierre  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3617-3630

Oxford University Press

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Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho –/– mice

By Ayuso C.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 547-558

Oxford University Press

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von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF

By Hoffman M.A.  

Human Molecular Genetics, Vol. 10, Iss. 10, 2001-05 ,pp. : 1019-1027

Oxford University Press

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