000 | 02059 a2200649 4500 | ||
---|---|---|---|
005 | 20250516131119.0 | ||
264 | 0 | _c20130404 | |
008 | 201304s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2012.12.003 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aFares-Taie, Lucas | |
245 | 0 | 0 |
_aALDH1A3 mutations cause recessive anophthalmia and microphthalmia. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cFeb 2013 |
||
300 |
_a265-70 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAldehyde Dehydrogenase _xgenetics |
650 | 0 | 4 | _aAldehyde Oxidoreductases |
650 | 0 | 4 |
_aAnophthalmos _xenzymology |
650 | 0 | 4 |
_aChromosome Segregation _xgenetics |
650 | 0 | 4 |
_aExons _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
650 | 0 | 4 | _aGenetic Linkage |
650 | 0 | 4 | _aHEK293 Cells |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntrons _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrophthalmos _xenzymology |
650 | 0 | 4 |
_aMutant Proteins _xmetabolism |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aSequence Analysis, DNA |
700 | 1 | _aGerber, Sylvie | |
700 | 1 | _aChassaing, Nicolas | |
700 | 1 | _aClayton-Smith, Jill | |
700 | 1 | _aHanein, Sylvain | |
700 | 1 | _aSilva, Eduardo | |
700 | 1 | _aSerey, Margaux | |
700 | 1 | _aSerre, Valérie | |
700 | 1 | _aGérard, Xavier | |
700 | 1 | _aBaumann, Clarisse | |
700 | 1 | _aPlessis, Ghislaine | |
700 | 1 | _aDemeer, Bénédicte | |
700 | 1 | _aBrétillon, Lionel | |
700 | 1 | _aBole, Christine | |
700 | 1 | _aNitschke, Patrick | |
700 | 1 | _aMunnich, Arnold | |
700 | 1 | _aLyonnet, Stanislas | |
700 | 1 | _aCalvas, Patrick | |
700 | 1 | _aKaplan, Josseline | |
700 | 1 | _aRagge, Nicola | |
700 | 1 | _aRozet, Jean-Michel | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 92 _gno. 2 _gp. 265-70 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2012.12.003 _zAvailable from publisher's website |
999 |
_c22412875 _d22412875 |