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Letter

Nature Genetics 36, 989–993 (1 September 2004) | doi:10.1038/ng1414

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Yanli Fan , Muneer A Esmail , Stephen J Ansley , Oliver E Blacque , Keith Boroevich , Alison J Ross , Susan J Moore , Jose L Badano , Helen May-Simera , Deanna S Compton , Jane S Green , Richard Alan Lewis , Mieke M van Haelst , Patrick S Parfrey , David L Baillie , Philip L Beales , Nicholas Katsanis , William S Davidson & Michel R Leroux

RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various membrane-associated intracellular trafficking processes. None of the |[sim]|50 known members of this family are linked to human disease.