000 02596 a2200853 4500
005 20250517100856.0
264 0 _c20170926
008 201709s 0 0 eng d
022 _a1558-8238
024 7 _a10.1172/JCI85830
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSouma, Tomokazu
245 0 0 _aAngiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
_h[electronic resource]
260 _bThe Journal of clinical investigation
_c07 2016
300 _a2575-87 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
650 0 4 _aAngiopoietins
_xmetabolism
650 0 4 _aAnimals
650 0 4 _aExome
650 0 4 _aFamily Health
650 0 4 _aGene Dosage
650 0 4 _aGene Expression Regulation
650 0 4 _aGlaucoma
_xcongenital
650 0 4 _aHumans
650 0 4 _aIntraocular Pressure
650 0 4 _aLigands
650 0 4 _aMice
650 0 4 _aMice, Knockout
650 0 4 _aMice, Transgenic
650 0 4 _aMutation
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPhosphorylation
650 0 4 _aReceptor, TIE-2
_xgenetics
650 0 4 _aSignal Transduction
650 0 4 _aTrabecular Meshwork
700 1 _aTompson, Stuart W
700 1 _aThomson, Benjamin R
700 1 _aSiggs, Owen M
700 1 _aKizhatil, Krishnakumar
700 1 _aYamaguchi, Shinji
700 1 _aFeng, Liang
700 1 _aLimviphuvadh, Vachiranee
700 1 _aWhisenhunt, Kristina N
700 1 _aMaurer-Stroh, Sebastian
700 1 _aYanovitch, Tammy L
700 1 _aKalaydjieva, Luba
700 1 _aAzmanov, Dimitar N
700 1 _aFinzi, Simone
700 1 _aMauri, Lucia
700 1 _aJavadiyan, Shahrbanou
700 1 _aSouzeau, Emmanuelle
700 1 _aZhou, Tiger
700 1 _aHewitt, Alex W
700 1 _aKloss, Bethany
700 1 _aBurdon, Kathryn P
700 1 _aMackey, David A
700 1 _aAllen, Keri F
700 1 _aRuddle, Jonathan B
700 1 _aLim, Sing-Hui
700 1 _aRozen, Steve
700 1 _aTran-Viet, Khanh-Nhat
700 1 _aLiu, Xiaorong
700 1 _aJohn, Simon
700 1 _aWiggs, Janey L
700 1 _aPasutto, Francesca
700 1 _aCraig, Jamie E
700 1 _aJin, Jing
700 1 _aQuaggin, Susan E
700 1 _aYoung, Terri L
773 0 _tThe Journal of clinical investigation
_gvol. 126
_gno. 7
_gp. 2575-87
856 4 0 _uhttps://doi.org/10.1172/JCI85830
_zAvailable from publisher's website
999 _c26097746
_d26097746