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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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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A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene

By Matsushima Yoshibumi   Shinkai Yusuke   Kobayashi Yasuhito   Sakamoto Michihiro   Kunieda Tetsuo   Tachibana Masayoshi  

Mammalian Genome, Vol. 13, Iss. 1, 2002-01 ,pp. : 30-35

Springer Publishing Company

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