Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

By Schäfer M.   Brümmendorf T.   de Angelis E.   Watkins A.   Kenwrick S.  

Human Molecular Genetics, Vol. 11, Iss. 1, 2002-01 ,pp. : 1-12

Oxford University Press

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Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR

By Nagaraj Kakanahalli   Kristiansen Lars V.   Skrzynski Adam   Castiella Carlos   Garcia-Alonso Luis   Hortsch Michael  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3822-3831

Oxford University Press

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A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

By Maue Robert A.   Burgess Robert W.   Wang Bing   Wooley Christine M.   Seburn Kevin L.   Vanier Marie T.   Rogers Maximillian A.   Chang Catherine C.   Chang Ta-Yuan   Harris Brent T.   Graber David J.   Penatti Carlos A.A.   Porter Donna M.   Szwergold Benjamin S.   Henderson Leslie P.   Totenhagen John W.   Trouard Theodore P.   Borbon Ivan A.   Erickson Robert P.  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 730-750

Oxford University Press

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Understanding human disease mutations through the use of interspecific genetic variation

By Miller M.P.   Kumar S.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2319-2328

Oxford University Press

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Dynamic mutations: a decade of unstable expanded repeats in human genetic disease

By Richards R.I.  

Human Molecular Genetics, Vol. 10, Iss. 20, 2001-10 ,pp. : 2187-2194

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