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