Browsing Faculty of Health Sciences (FHS) by Author "Takai, Y"

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    • Mutations Of The Catalytic Subunit Of RAB3GAP Cause Warburg Micro Syndrome. 

      Maher, ER; Woods, CG; Tannahill, D; Mundlos, S; Takai, Y; Harris, LW; Trembath, RC; Bond, J; Warburg, M; Kjaer, KW; Graham, JM Jr; Dobyns, WB; Newbury-Ecob, R; Shield, JP; Mégarbané, A; Clayton-Smith, J; Fieggen, K; Stolte-Dijkstra, I; Cole, TR; Rosser, E; Horn, D; Ainsworth, JR; Morton, J; Tee, L; Morgan, NV; Maina, EN; Hoffmann, K; Hampshire, D; Chen, D; Gissen, P; Johnson, CA; Aligianis, IA (Department of Biochemistry, 2005)
      Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating ...