Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

By Greenhalgh D.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1737-1744

Oxford University Press

Access to resources Recommend Favorite

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

By Aoki Y.  

Human Molecular Genetics, Vol. 12, Iss. 9, 2003-05 ,pp. : 995-1004

Oxford University Press

Access to resources Recommend Favorite

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

By Denoyelle Françoise  

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

Oxford University Press

Access to resources Recommend Favorite

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1342-1348

John Wiley & Sons Inc

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite