Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

The American Journal of Human Genetics - Tập 80 - Trang 195-199 - 2007
Ference J. Loupatty, Peter T. Clayton1, Jos P.N. Ruiter2, Rob Ofman, Lodewijk IJlst, Garry K. Brown3, David R. Thorburn4,5, Robert A. Harris6, Marinus Duran2, Carlos DeSousa1, Steve Krywawych1, Simon J.R. Heales7, Ronald J.A. Wanders2
1University College London Institute of Child Health with Great Ormond Street Hospital for Children (P.T.C.; C.D.; S.K.)
2Department of Clinical Chemistry and Pediatrics, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam (F.J.L; J.P.N.R.; R.O; L.IJ.; M.D.; R.J.A.W.)
3Genetics Unit, Department of Biochemistry, University of Oxford, Oxford (G.K.B.) Melbourne;
4Murdoch Children’s Research Institute, Royal Children’s Hospital (D.R.T.) Melbourne;
5Department of Pediatrics, University of Melbourne (D.R.T.) Melbourne;
6Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN (R.A.H.)
7University College London Institute of Neurology with the National Hospital for Neurology and Surgery, London (S.J.R.H.)

Tài liệu tham khảo

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