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 |