000 | 02023 a2200685 4500 | ||
---|---|---|---|
005 | 20250515225102.0 | ||
264 | 0 | _c20101020 | |
008 | 201010s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.21296 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGuilmatre, Audrey | |
245 | 0 | 0 |
_aType I hyperprolinemia: genotype/phenotype correlations. _h[electronic resource] |
260 |
_bHuman mutation _cAug 2010 |
||
300 |
_a961-5 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xenzymology |
650 | 0 | 4 | _aCase-Control Studies |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMutation, Missense _xgenetics |
650 | 0 | 4 |
_aProline _xmetabolism |
650 | 0 | 4 |
_aProline Oxidase _xgenetics |
700 | 1 | _aLegallic, Solenn | |
700 | 1 | _aSteel, Gary | |
700 | 1 | _aWillis, Alecia | |
700 | 1 | _aDi Rosa, Gabriella | |
700 | 1 | _aGoldenberg, Alice | |
700 | 1 | _aDrouin-Garraud, Valérie | |
700 | 1 | _aGuet, Agnès | |
700 | 1 | _aMignot, Cyril | |
700 | 1 | _aDes Portes, Vincent | |
700 | 1 | _aValayannopoulos, Vassili | |
700 | 1 | _aVan Maldergem, Lionel | |
700 | 1 | _aHoffman, Jodi D | |
700 | 1 | _aIzzi, Claudia | |
700 | 1 | _aEspil-Taris, Caroline | |
700 | 1 | _aOrcesi, Simona | |
700 | 1 | _aBonafé, Luisa | |
700 | 1 | _aLe Galloudec, Eric | |
700 | 1 | _aMaurey, Hélène | |
700 | 1 | _aIoos, Christine | |
700 | 1 | _aAfenjar, Alexandra | |
700 | 1 | _aBlanchet, Patricia | |
700 | 1 | _aEchenne, Bernard | |
700 | 1 | _aRoubertie, Agathe | |
700 | 1 | _aFrebourg, Thierry | |
700 | 1 | _aValle, David | |
700 | 1 | _aCampion, Dominique | |
773 | 0 |
_tHuman mutation _gvol. 31 _gno. 8 _gp. 961-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21296 _zAvailable from publisher's website |
999 |
_c19874809 _d19874809 |