dc.contributor.author | Maher, ER | |
dc.contributor.author | Woods, CG | |
dc.contributor.author | Tannahill, D | |
dc.contributor.author | Mundlos, S | |
dc.contributor.author | Takai, Y | |
dc.contributor.author | Harris, LW | |
dc.contributor.author | Trembath, RC | |
dc.contributor.author | Bond, J | |
dc.contributor.author | Warburg, M | |
dc.contributor.author | Kjaer, KW | |
dc.contributor.author | Graham, JM Jr | |
dc.contributor.author | Dobyns, WB | |
dc.contributor.author | Newbury-Ecob, R | |
dc.contributor.author | Shield, JP | |
dc.contributor.author | Mégarbané, A | |
dc.contributor.author | Clayton-Smith, J | |
dc.contributor.author | Fieggen, K | |
dc.contributor.author | Stolte-Dijkstra, I | |
dc.contributor.author | Cole, TR | |
dc.contributor.author | Rosser, E | |
dc.contributor.author | Horn, D | |
dc.contributor.author | Ainsworth, JR | |
dc.contributor.author | Morton, J | |
dc.contributor.author | Tee, L | |
dc.contributor.author | Morgan, NV | |
dc.contributor.author | Maina, EN | |
dc.contributor.author | Hoffmann, K | |
dc.contributor.author | Hampshire, D | |
dc.contributor.author | Chen, D | |
dc.contributor.author | Gissen, P | |
dc.contributor.author | Johnson, CA | |
dc.contributor.author | Aligianis, IA | |
dc.date.accessioned | 2013-07-17T13:28:17Z | |
dc.date.available | 2013-07-17T13:28:17Z | |
dc.date.issued | 2005 | |
dc.identifier.citation | Nat Genet. 2005 Mar;37(3):221-3 | en |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/pubmed/15696165 | |
dc.identifier.uri | http://erepository.uonbi.ac.ke:8080/xmlui/handle/123456789/48654 | |
dc.description.abstract | 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 mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors | en |
dc.language.iso | en | en |
dc.title | Mutations Of The Catalytic Subunit Of RAB3GAP Cause Warburg Micro Syndrome. | en |
dc.type | Article | en |
local.publisher | Department of Biochemistry | en |