Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

By Reiners Jan   van Wijk Erwin   Zimmermann Ulrike   Jürgens Karin   te Brinke Heleen   Overlack Nora   Roepman Ronald   Knipper Marlies   Kremer Hannie   Wolfrum Uwe  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3933-3943

Oxford University Press

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The recently identified type 2A juvenile haemochromatosis gene ( HJV ), a second candidate modifier of the C282Y homozygous phenotype

By Le Gac Gérald  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1913-1918

Oxford University Press

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Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

By Johnson Kenneth R.   Gagnon Leona H.   Webb Lisa S.   Peters Luanne L.   Hawes Norman L.   Chang Bo   Zheng Qing Yin  

Human Molecular Genetics, Vol. 12, Iss. 23, 2003-12 ,pp. : 3075-3086

Oxford University Press

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Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

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Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 1, 2016-01 ,pp. : 77-94

John Wiley & Sons Inc

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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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