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

Stephanie Gobin-Limballe,Chris Ottolenghi,Fabien Reyal,Jean-Baptiste Arnoux,Maryse Magen, Marie Simon,Anais Brassier,Fabienne Jabot-Hanin,Pascale De Lonlay,Clement Pontoizeau, Manel Guirat,Marlene Rio,Roselyne Gesny,Nadine Gigarel,Ghislaine Royer,Julie Steffann,Arnold Munnich,Jean-Paul Bonnefont

Journal of inherited metabolic disease（2021）

Cited 8|Views10
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Key words
ornithine transcarbamylase,OTC activity,OTC deficiency,phenotype-genotype correlation,X chromosome inactivation
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