Identification of Mutations in Two Major mRNA Isoforms of the Chediak-Higashi Syndrome Gene in Human and Mouse

By Barbosa Maria D. F. S.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-07 ,pp. : 1091-1098

Oxford University Press

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Functional analysis of novel mutations in y + LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)

By Mykkänen Juha  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 431-438

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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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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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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