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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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

By Ridout Cheryl  

Human Genetics, Vol. 124, Iss. 2, 2008-09 ,pp. : 187-193

Springer Publishing Company

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Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology

By Gautheron Jrmie   Pescatore Alessandra   Fusco Francesca   Esposito Elio   Yamaoka Shoji   Agou Fabrice   Ursini Matilde Valeria   Courtois Gilles  

Human Molecular Genetics, Vol. 19, Iss. 16, 2010-08 ,pp. : 3138-3149

Oxford University Press

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The Conradi–Hünermann–Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

By Has Cristina   Bruckner-Tuderman Leena   Müller Dietmar  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1951-1955

Oxford University Press

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