Development of MPS IVA mouse (Galns tm(hC79S·mC76S)slu ) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

By Tomatsu Shunji  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3321-3335

Oxford University Press

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Mouse model of N -acetylgalactosamine-6-sulfate sulfatase deficiency ( Galns −/− ) produced by targeted disruption of the gene defective in Morquio A disease

By Tomatsu Shunji  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3349-3358

Oxford University Press

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Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

By Saleem Ramsey A.  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 2993-3005

Oxford University Press

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Functional Analysis of Paired Box Missense Mutations in The PAX6 Gene

By Kejun Tang Hank   Chao Lian-Yu   Saunders Grady F.  

Human Molecular Genetics, Vol. 6, Iss. 3, 1997-01 ,pp. : 381-386

Oxford University Press

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Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

By Das A.K.   Lu J-Y.   Hofmann S.L.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1431-1439

Oxford University Press

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