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authIdHal_s : marie-abitbol

Les tests génétiques chez le chien

Marie Abitbol , Catherine André , Guillaume Queney , Gilles Chaudieu
Revue Francophone des Laboratoires, 2010, 2010 (420), pp.69-82. ⟨10.1016/S1773-035X(10)70422-6⟩
Journal articles istex hal-01117459v1
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A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

Marie Abitbol , Jean-Laurent Thibaud , Natasha J. Olby , Christophe Hitte , Jean-Philippe Puech et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14775-80. ⟨10.1073/pnas.0914206107⟩
Journal articles inserm-00511951v1

A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

M. Abitbol , J.-L. Thibaud , N. Olby , C. Hitte , J.-P. Puech et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14775-14780. ⟨10.1073/pnas.0914206107⟩
Journal articles hal-02484655v1
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A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome

Marie Abitbol , Christophe Hitte , Philippe Bossé , Nicolas Blanchard-Gutton , Anne Thomas et al.
PLoS ONE, 2015, 10 (9), pp.e0137019. ⟨10.1371/journal.pone.0137019⟩
Journal articles hal-01196603v1
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Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene

Marina Mériot , Christophe Hitte , Maud Rimbault , Caroline Dufaure de Citres , Vincent Gache et al.
Pigment Cell and Melanoma Research, 2020, 33 (6), pp.814-825. ⟨10.1111/pcmr.12906⟩
Journal articles hal-02888602v1