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