Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families-Reference-Cited by-同舟云学术

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

Published:2013-02-07 Issue:6 Volume:84 Page:552-559
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Storkanova G¹,Vlaskova H¹,Chuzhanova N²,Zeman J³,Stranecky V¹,Majer F¹,Peskova K¹,Luksan O⁴,Jirsa M⁴,Hrebicek M¹,Dvorakova L¹

Affiliation:

1. Institute of Inherited Metabolic Disorders, First Faculty of Medicine; Charles University in Prague, and General University Hospital in Prague; Czech Republic

2. School of Science and Technology; Nottingham Trent University; Nottingham NG11 8NS UK

3. Department of Paediatrics and Adolescent Medicine; First Faculty of Medicine, Charles University in Prague, and General University Hospital in Prague; Czech Republic

4. Laboratory of Experimental Hepatology; Institute for Clinical and Experimental Medicine (IKEM); Prague Czech Republic

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

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2. Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency;Luksan;Hum Mutat,2010

3. A fine-scale map of recombination rates and hotspots across the human genome;Myers;Science,2005

4. Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome;Zheng;Genome Biol,2010

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4. Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency;Virchows Archiv;2018-04-06

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