000 01638 a2200481 4500
005 20250514020207.0
264 0 _c20020117
008 200201s 0 0 eng d
022 _a0002-9394
024 7 _a10.1016/s0002-9394(01)01231-4
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aChung, G W
245 0 0 _aRenal-coloboma syndrome: report of a novel PAX2 gene mutation.
_h[electronic resource]
260 _bAmerican journal of ophthalmology
_cDec 2001
300 _a910-4 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aChild
650 0 4 _aColoboma
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA-Binding Proteins
_xgenetics
650 0 4 _aExons
_xgenetics
650 0 4 _aEye Abnormalities
_xgenetics
650 0 4 _aFemale
650 0 4 _aGene Deletion
650 0 4 _aHumans
650 0 4 _aKidney
_xabnormalities
650 0 4 _aMutation
650 0 4 _aOptic Nerve
_xabnormalities
650 0 4 _aPAX2 Transcription Factor
650 0 4 _aPedigree
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aPolymorphism, Single-Stranded Conformational
650 0 4 _aSyndrome
650 0 4 _aTranscription Factors
_xgenetics
700 1 _aEdwards, A O
700 1 _aSchimmenti, L A
700 1 _aManligas, G S
700 1 _aZhang, Y H
700 1 _aRitter, R
773 0 _tAmerican journal of ophthalmology
_gvol. 132
_gno. 6
_gp. 910-4
856 4 0 _uhttps://doi.org/10.1016/s0002-9394(01)01231-4
_zAvailable from publisher's website
999 _c11644489
_d11644489