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Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
Raymond, F Lucy; Tarpey, Patrick S; Edkins, Sarah; Tofts, Calli; O'Meara, Sarah; Teague, Jon; Butler, Adam; Stevens, Claire; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Perry, Janet; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Shaw, Marie; Boyle, Jackie; Kerr, Bronwyn; Turner, Gillian; Quarrell, Oliver; Cole, Trevor; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew.
Affiliation
  • Raymond FL; Cambridge Institute of Medical Research, University of Cambridge, Cambridge, CB2 2XY, UK. flr24@cam.ac.uk.
Am J Hum Genet ; 80(5): 982-7, 2007 May.
Article in En | MEDLINE | ID: mdl-17436253
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Mental Retardation, X-Linked / Marfan Syndrome / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Document type: Article Affiliation country: United kingdom Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acyltransferases / Mental Retardation, X-Linked / Marfan Syndrome / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2007 Document type: Article Affiliation country: United kingdom Country of publication: United States