| 000 | 01790 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250514162824.0 | ||
| 264 | 0 | _c20040126 | |
| 008 | 200401s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9204 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRoyer, Ghislaine | |
| 245 | 0 | 0 |
_aNDP gene mutations in 14 French families with Norrie disease. _h[electronic resource] |
| 260 |
_bHuman mutation _cDec 2003 |
||
| 300 |
_a499 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBlindness _xcongenital |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA _xchemistry |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDeafness _xpathology |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aEye Proteins _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrance |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xpathology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetina _xpathology |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aHanein, Sylvain | |
| 700 | 1 | _aRaclin, Valérie | |
| 700 | 1 | _aGigarel, Nadine | |
| 700 | 1 | _aRozet, Jean-Michel | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aSteffann, Julie | |
| 700 | 1 | _aDufier, Jean-Louis | |
| 700 | 1 | _aKaplan, Josseline | |
| 700 | 1 | _aBonnefont, Jean-Paul | |
| 773 | 0 |
_tHuman mutation _gvol. 22 _gno. 6 _gp. 499 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9204 _zAvailable from publisher's website |
| 999 |
_c14371221 _d14371221 |
||