Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET

By Kjær Svend   Ibáñez Carlos F.  

Human Molecular Genetics, Vol. 12, Iss. 17, 2003-09 ,pp. : 2133-2144

Oxford University Press

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Two distinct mutations of the RET receptor causing Hirschsprung’s disease impair the binding of signalling effectors to a multifunctional docking site

By Geneste Olivier   Bidaud Christelle   Vita Gabriella De   Hofstra Robert M. W.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 1989-1999

Oxford University Press

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TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

By Garcia-Barcelo Mercè  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 191-204

Oxford University Press

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Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)

By Fitze Guido  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3207-3214

Oxford University Press

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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

By Bachy B.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1449-1452

Oxford University Press

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