Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping.
作者信息
Guéant Jean-Louis, Feillet François
机构信息
INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France.
Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France.
出版信息
Hum Genet. 2022 Jul;141(7):1235-1237. doi: 10.1007/s00439-022-02467-4.
PMID:35754062
Abstract
摘要
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