000 01813 a2200505 4500
005 20250516173113.0
264 0 _c20140219
008 201402s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2013.08.010
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRiazuddin, S Amer
245 0 0 _aMutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cOct 2013
300 _a758-64 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aAged, 80 and over
650 0 4 _aAlleles
650 0 4 _aBasic Helix-Loop-Helix Leucine Zipper Transcription Factors
_xgenetics
650 0 4 _aCarboxypeptidases
_xgenetics
650 0 4 _aCell Line
650 0 4 _aCodon, Nonsense
650 0 4 _aEndothelium, Corneal
_xenzymology
650 0 4 _aFemale
650 0 4 _aFuchs' Endothelial Dystrophy
_xenzymology
650 0 4 _aGenetic Loci
650 0 4 _aGenome-Wide Association Study
650 0 4 _aGlutamate Decarboxylase
_xgenetics
650 0 4 _aHEK293 Cells
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aProtein Interaction Domains and Motifs
_xgenetics
650 0 4 _aTranscription Factor 4
650 0 4 _aTranscription Factors
_xgenetics
700 1 _aVasanth, Shivakumar
700 1 _aKatsanis, Nicholas
700 1 _aGottsch, John D
773 0 _tAmerican journal of human genetics
_gvol. 93
_gno. 4
_gp. 758-64
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2013.08.010
_zAvailable from publisher's website
999 _c23142492
_d23142492