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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: beldjord c. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Billuart P, Chelly J, Carrié A, Vinet M, Couvert P, McDonell N, Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T. Billuart P, et al. Among authors: beldjord c. Ann Genet. 2000 Jan-Mar;43(1):5-9. doi: 10.1016/s0003-3995(00)00015-0. Ann Genet. 2000. PMID: 10818214
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J. des Portes V, et al. Among authors: beldjord c. Am J Med Genet. 1996 Jul 12;64(1):69-72. doi: 10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826451
147 results