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