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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A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR)

By Yang G.C.   Croaker D.   Zhang A.L.   Manglick P.   Cartmill T.   Cass D.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1047-1053

Oxford University Press

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Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease

By Eketjäll S.   Ibáñez C.F.  

Human Molecular Genetics, Vol. 11, Iss. 3, 2002-02 ,pp. : 325-329

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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