Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

By Roessler Erich  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1847-1853

Oxford University Press

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Enhanced β-secretase processing alters APP axonal transport and leads to axonal defects

By Rodrigues Elizabeth M.   Weissmiller April M.   Goldstein Lawrence S.B.  

Human Molecular Genetics, Vol. 21, Iss. 21, 2012-11 ,pp. : 4587-4601

Oxford University Press

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

By Monnier N.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2581-2592

Oxford University Press

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Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations

By Reinhardt D.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2039-2044

Oxford University Press

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C-terminal HERG (LQT2) mutations disrupt I Kr channel regulation through 14-3-3

By Choe Chi-un   Schulze-Bahr Eric   Zhu Zheng I.   Sauter Kathrin   Bähring Robert   Priori Silvia   Guicheney Pascale   Mönnig Gerold   Neapolitano Carlo   Heidemann Jan   Clancy Colleen E.   Pongs Olaf   Isbrandt Dirk  

Human Molecular Genetics, Vol. 15, Iss. 19, 2006-10 ,pp. : 2888-2902

Oxford University Press

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