Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

Charcot–Marie–Tooth disease type 2B (CMT2B) is an inherited axonal peripheral neuropathy. It is characterised by prominent sensory loss, often complicated by severe ulcero-mutilations of toes or feet, and variable motor involvement. Missense mutations in RAB7A, the gene encoding the small GTPase Rab...

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Autors principals:	Katrien Janssens, Sofie Goethals, Derek Atkinson, Biljana Ermanoska, Erik Fransen, Albena Jordanova, Michaela Auer-Grumbach, Bob Asselbergh, Vincent Timmerman
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2014-05-01
Col·lecció:	Neurobiology of Disease
Matèries:	Rab7 Drosophila melanogaster Charcot–Marie–Tooth Behavioural assay
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S0969996114000357
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