| 000 | 01665 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515031434.0 | ||
| 264 | 0 | _c20061102 | |
| 008 | 200611s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201670 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRendtorff, Nanna D | |
| 245 | 0 | 0 |
_aA novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cOct 2006 |
||
| 300 |
_a1097-105 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aActins _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFollow-Up Studies |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aNorway |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSaccharomyces cerevisiae _xgenetics |
| 700 | 1 | _aZhu, Mei | |
| 700 | 1 | _aFagerheim, Toril | |
| 700 | 1 | _aAntal, Torben L | |
| 700 | 1 | _aJones, MaryPat | |
| 700 | 1 | _aTeslovich, Tanya M | |
| 700 | 1 | _aGillanders, Elizabeth M | |
| 700 | 1 | _aBarmada, Michael | |
| 700 | 1 | _aTeig, Erik | |
| 700 | 1 | _aTrent, Jeffrey M | |
| 700 | 1 | _aFriderici, Karen H | |
| 700 | 1 | _aStephan, Dietrich A | |
| 700 | 1 | _aTranebjaerg, Lisbeth | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 14 _gno. 10 _gp. 1097-105 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201670 _zAvailable from publisher's website |
| 999 |
_c16368126 _d16368126 |
||