OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

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作者： Stephanie,Gobin-Limballe ^[1] ; Chris,Ottolenghi ^[2] ; Fabien,Reyal ^[3] ; Jean-Baptiste,Arnoux ^[1] ; Maryse,Magen ^[4] ; Marie,Simon ^[5] ; Anaïs,Brassier ^[6] ; Fabienne,Jabot-Hanin ^[1] ; Pascale De,Lonlay ^[1] ; Clement,Pontoizeau ^[5] ; Manel,Guirat ^[6] ; Marlene,Rio ^[7] ; Roselyne,Gesny ^[8] ; Nadine,Gigarel ^[5] ; Ghislaine,Royer ^[6] ; Julie,Steffann ^[2] ; Arnold,Munnich ^[3] ; Jean-Paul,Bonnefont ^[1]

作者单位： Molecular Genetics Department, Necker Hospital, APHP Centre-Paris University, Paris, France. ^[1] Metabolomic and Proteomic Biochemistry Department, Necker Hospital, APHP Centre- Paris University, Paris, France. ^[2] INSERM UMR1163, Institut Imagine, Paris University, Paris, France. ^[3] Breast Gynecologic Cancer Reconstructive Team, Institut Curie, Paris University, Paris, France. ^[4] Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital, APHP Centre-Paris University, Paris, France. ^[5] INSERM U1151, INEM, Paris University, Paris, France. ^[6] Bioinformatics Platform, Paris University, INSERM UMR1163, Institut Imagine, Paris, France. ^[7] Structure Federative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France. ^[8] Clinical Genetics Department, Necker Hospital, APHP Centre-Paris University, Paris, France. ^[9]

关键词 OTC activity OTC deficiency X chromosome inactivation ornithine transcarbamylase phenotype-genotype correlation