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Volume 349:716-717 August 14, 2003 Number 7
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Molecular Mechanism of a Frequent Genetic Form of Deafness

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To the Editor: The genes encoding the two major connexins of the cochlea are contiguous on human chromosome 13 (GJB2 and GJB6) and on mouse chromosome 14 (Cx26 and Cx30, respectively). Biallelic GJB2 mutations account for a large proportion of cases of recessive deafness in many European countries,1 whereas biallelic mutations of GJB6 appear to be involved only rarely. However, del Castillo et al.2 have shown that a significant proportion of people who have severe or profound prelingual deafness carry both a deleterious point mutation in GJB2 on one chromosome and a large deletion (approximately 340 kb) in GJB6, but . . . [Full Text of this Article]


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