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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
Hum Mol Genet. 2005 Jan 1;14(1):103-11. doi: 10.1093/hmg/ddi010. Epub 2004 Nov 10.
Hum Mol Genet. 2005.
PMID: 15537665
Free PMC article.
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
Bolz H, et al.
Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667.
Nat Genet. 2001.
PMID: 11138009
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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.
Astuto LM, et al.
Am J Hum Genet. 2002 Aug;71(2):262-75. doi: 10.1086/341558. Epub 2002 Jun 19.
Am J Hum Genet. 2002.
PMID: 12075507
Free PMC article.
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