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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Endothelin-B Receptor Mutations in Patients with Isolated Hirschsprung Disease from a Non-Inbred Population

By Auricchio Alberto   Casari Giorgio   Staiano Annamaria   Ballabio Andrea  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 351-354

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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Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy

By Wilkie Susan E.   Newbold RichardJ.  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3065-3073

Oxford University Press

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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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