Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2

By Hodgkinson C.A.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 703-708

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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Ser72Pro Active-Site Disease Mutation in Human Lysosomal Aspartylglucosaminidase: Abnormal Intracellular Processing and Evidence for Extracellular Activation

By Peltola Minna   Tikkanen Ritva   Peltonen Leena   Jalanko Anu  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 737-743

Oxford University Press

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Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro

By Streets Andrew J.   Moon David J.   Kane Michelle E.   Obara Tomoko   Ong Albert C.M.  

Human Molecular Genetics, Vol. 15, Iss. 9, 2006-05 ,pp. : 1465-1473

Oxford University Press

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Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

By Morell R.  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 659-664

Oxford University Press

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