A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F 1 subunit

By Mayr Johannes A.   Havlkov Vendula   Zimmermann Franz   Magler Iris   Kaplanov Vilma   Jeina Pavel   Pecinov Alena   Nskov Hana   Koch Johannes   Sperl Wolfgang   Houtk Josef  

Human Molecular Genetics, Vol. 19, Iss. 17, 2010-09 ,pp. : 3430-3439

Oxford University Press

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A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility

By Rafii S.  

Human Molecular Genetics, Vol. 12, Iss. 8, 2003-04 ,pp. : 915-923

Oxford University Press

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Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti

By Sebban-Benin Hlne   Pescatore Alessandra   Fusco Francesca   Pascuale Valrie   Gautheron Jrmie   Yamaoka Shoji   Moncla Anne   Ursini Matilde Valeria   Courtois Gilles  

Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2805-2815

Oxford University Press

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Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti

By Sebban-Benin Hlne   Pescatore Alessandra   Fusco Francesca   Pascuale Valrie   Gautheron Jrmie   Yamaoka Shoji   Moncla Anne   Ursini Matilde Valeria   Courtois Gilles  

Human Molecular Genetics, Vol. 17, Iss. 4, 2008-02 ,pp. : 639-639

Oxford University Press

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