The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

By Schtz Melanie   Scimemi Pietro   Majumder Paromita   De Siati Romolo Daniele   Crispino Giulia   Rodriguez Laura   Bortolozzi Mario   Santarelli Rosamaria   Seydel Anke   Sonntag Stephan   Ingham Neil   Steel Karen P.   Willecke Klaus   Mammano Fabio  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4759-4773

Oxford University Press

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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

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Human Molecular Genetics, Vol. 6, Iss. 12, 1997-11 ,pp. : 2173-2177

Oxford University Press

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families

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Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1237-1243

Oxford University Press

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Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA Ile mutation causing hypertrophic cardiomyopathy

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Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 85-100

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A deletion on Chromosome 4 cosegregates with the whirler deafness mutation: exclusion of as a candidate

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Mammalian Genome, Vol. 11, Iss. 1, 2000-01 ,pp. : 51-57

Springer Publishing Company

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