000 | 01951 a2200589 4500 | ||
---|---|---|---|
005 | 20250516063403.0 | ||
264 | 0 | _c20120709 | |
008 | 201207s 0 0 eng d | ||
022 | _a1460-2083 | ||
024 | 7 |
_a10.1093/hmg/ddr509 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aKhan, Kamron | |
245 | 0 | 0 |
_aNext generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. _h[electronic resource] |
260 |
_bHuman molecular genetics _cFeb 2012 |
||
300 |
_a776-83 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aBasic Helix-Loop-Helix Transcription Factors _xgenetics |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
650 | 0 | 4 |
_aEye _xembryology |
650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
650 | 0 | 4 |
_aEye Diseases _xgenetics |
650 | 0 | 4 |
_aEye Proteins _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aNerve Tissue Proteins _xmetabolism |
650 | 0 | 4 |
_aRetina _xpathology |
650 | 0 | 4 |
_abeta Catenin _xmetabolism |
700 | 1 | _aLogan, Clare V | |
700 | 1 | _aMcKibbin, Martin | |
700 | 1 | _aSheridan, Eamonn | |
700 | 1 | _aElçioglu, Nursel H | |
700 | 1 | _aYenice, Ozlem | |
700 | 1 | _aParry, David A | |
700 | 1 | _aFernandez-Fuentes, Narcis | |
700 | 1 | _aAbdelhamed, Zakia I A | |
700 | 1 | _aAl-Maskari, Ahmed | |
700 | 1 | _aPoulter, James A | |
700 | 1 | _aMohamed, Moin D | |
700 | 1 | _aCarr, Ian M | |
700 | 1 | _aMorgan, Joanne E | |
700 | 1 | _aJafri, Hussain | |
700 | 1 | _aRaashid, Yasmin | |
700 | 1 | _aTaylor, Graham R | |
700 | 1 | _aJohnson, Colin A | |
700 | 1 | _aInglehearn, Chris F | |
700 | 1 | _aToomes, Carmel | |
700 | 1 | _aAli, Manir | |
773 | 0 |
_tHuman molecular genetics _gvol. 21 _gno. 4 _gp. 776-83 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddr509 _zAvailable from publisher's website |
999 |
_c21297706 _d21297706 |