| 000 | 01551 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250514232836.0 | ||
| 264 | 0 | _c20050913 | |
| 008 | 200509s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2005.00468.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPiazza, V | |
| 245 | 0 | 0 |
_aFunctional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. _h[electronic resource] |
| 260 |
_bClinical genetics _cAug 2005 |
||
| 300 |
_a161-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aConnexin 26 |
| 650 | 0 | 4 |
_aConnexins _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectrophysiology |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHeLa Cells |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKeratoderma, Palmoplantar _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPatch-Clamp Techniques |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aBeltramello, M | |
| 700 | 1 | _aMenniti, M | |
| 700 | 1 | _aColao, E | |
| 700 | 1 | _aMalatesta, P | |
| 700 | 1 | _aArgento, R | |
| 700 | 1 | _aChiarella, G | |
| 700 | 1 | _aGallo, L V | |
| 700 | 1 | _aCatalano, M | |
| 700 | 1 | _aPerrotti, N | |
| 700 | 1 | _aMammano, F | |
| 700 | 1 | _aCassandro, E | |
| 773 | 0 |
_tClinical genetics _gvol. 68 _gno. 2 _gp. 161-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2005.00468.x _zAvailable from publisher's website |
| 999 |
_c15652927 _d15652927 |
||