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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Novel Mutations of the Endothelin-B Receptor Gene in Isolated Patients with Hirschsprung'S Disease

By Kusafuka Takeshi   Wang Yiping   Puri Prem  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 347-349

Oxford University Press

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Heterozygous Endothelin Receptor B ( EDNRB Mutations in Isolated Hirschsprung Disease

By Amiel Jeanne   Attié Tania   Jan Dominique   Pelet Anna   Edery Patrick   Bidaud Christelle   Lacombe Didier   Tam Paul   Simeoni Juliette   Flori Elisabeth   Nihoul-Fékété Claire   Munnich Arnold   Lyonnet Stanislas  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 355-357

Oxford University Press

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De Novo Mutation of GDNF, Ligand for the RET/GDNFR-α Receptor Complex, in Hirschsprung Disease

By Ivanchuk Stacey M.   Myers Shirley M.   Eng Charis   Mulligan Lois M.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 2023-2026

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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