DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8

Literature (2)

Literature for OMIM 601072: DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8

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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.