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 |