Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

By Zelante Leopoldo   Gasparini Paolo   Estivill Xavier  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1605-1609

Oxford University Press

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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

By Thönnissen Eva   Rabionet Raquel   Arbonès Maria   Estivill Xavier   Willecke Klaus   Ott Thomas  

Human Genetics, Vol. 111, Iss. 2, 2002-08 ,pp. : 190-197

Springer Publishing Company

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Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

By Balkany T.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2945-2951

Oxford University Press

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Mapping of DFNB12 , a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22

By Chaïb Hassan  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1061-1064

Oxford University Press

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Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations

By Carrasquillo Minerva M.   Zlotogora Joel   Barges Saleh   Chakravarti Aravinda  

Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2163-2172

Oxford University Press

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