Triple A syndrome is caused by mutations in AAAS , a new WD-repeat protein gene

By Handschug K.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 283-290

Oxford University Press

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Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

By Weil Dominique  

Human Molecular Genetics, Vol. 12, Iss. 5, 2003-03 ,pp. : 463-471

Oxford University Press

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Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

By Adam Marie F.  

Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2091-2097

Oxford University Press

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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

By Marsh K.L.   Dixon J.   Dixon M.J.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1795-1800

Oxford University Press

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The NanceHoran syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

By Brooks Simon P.   Coccia Margherita   Tang Hao R.   Kanuga Naheed   Machesky Laura M.   Bailly Maryse   Cheetham Michael E.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 19, Iss. 12, 2010-06 ,pp. : 2421-2432

Oxford University Press

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