| 1 | DFNAC, DFNB1, GJB2, GJB3
|
| Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
|
| Liu XZ, Yuan Y, Yan D, Ding EH, Ouyang XM, Fei Y, Tang W, Yuan H, Chang Q, Du LL, Zhang X, Wang G, Ahmad S, Kang DY, Lin X, Dai P.
|
| Hum Genet 125(1):53-62. Epub 2008 Dec 3.
2009
|
| 2 | GJB3, EKV, PNHI, DFNAC
|
| Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
|
| Unsworth HC, Aasen T, McElwaine S, Kelsell DP.
|
| Hum Mol Genet 16(2):165-72. Epub 2006 Dec 1. 2007
|
| 3 | DFNAC, EKV, GJB3
|
| A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
|
| Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.
|
| Hum Mol Genet 11(11):1311-6. 2002
|
| 4 | DFNAC, GJB3
|
| Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
|
| Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE.
|
| Hum Mol Genet 9(1):63-7 2000
|
| 5 | DFNAC, GJB3
|
| Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
|
| Xia JH, et al.
|
| Nat Genet 20 : 370-373. 1998
|