Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

Authors:	V Klaus,T Vermeulen,B Minassian,N Israelian,K Engel,AM Lund,K Roebrock,E Christensen, J Hä berle

Affiliation:	Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Albert- Schweitzer-Str. 33, 48129 Münster, Germany;, Program in Genetics and Genome Biology and the Division of Neurology, The Hospital for Sick Children, 555 University Ave, Toronto ON, M5G 1X8, Canada;, Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK-2100, Copenhagen, Denmark;, Universitätsklinikum Münster, Institut für Immunologie, Röntgenstraße 21, 48149 Münster, Germany;, and Kinderspital Zurich, Division of Metabolism, Steinwiesstr. 75, 8032 Zurich, Switzerland

Abstract:

Keywords:	allelic expression allelic variation carbamylphosphate synthetase 1 CPS1 inborn error of metabolism late-onset urea cycle disorder neonatal hyperammonemia regulatory element