Titlebook: Chemical Probes in Biology; Science at the Inter Philip J. Snodgrass Book 2004 Springer Science+Business Media Dordrecht 2004 Amino acid.In

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and internists who care for patients with OTC deficiency, as well as for basic scientists and genetic researchers who study the urea cycle in mammals and the arginine biosynthetic pathway in bacteria and fungi.978-1-4613-4779-8978-1-4419-9062-4

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Gene Structure, Regulation and Function, is located on the X chromosome, lyonization of the OTC gene in females due to random inactivation of one of the X-chromosomes. leads to a mosaic pattern in the liver which was elegantly demonstrated in the liver of a female heterozygous for OTC deficiency..

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Molecular Pathology of OTC Deficiency,ites found in the amniotic fluid in OTC deficiency. Fetal liver biopsies are possible in order to assay urea cycle enzymes but are quite risky to the pregnancy.. Thus molecular genetic approaches have been developed to solve this problem.

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Diagnosis and Treatment of OTC Deficiency,itrogen excretion. and by liver transplantation.. The role of imaging methods is noted for computed tomography (CT) and magnetic resonance (MR) scans.. Measurement of orotic acidJorotidine in urine is discussed. and also methods for assay of OTC in tissue samples.. In this chapter we expand on all aspects of diagnosis and treatment.

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Gene Structure, Regulation and Function,n the gene for Duchenne muscular dystrophy. The gene was located in normal cell lines by . hybridization to mitotic chromosome spreads, employing a nearly full-length eDNA probe. Finer localization was accomplished by using the probe on chromosomes with known deletions in the p21 region., Because it

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Molecular and Kinetic Characteristics,dolphin (.)(.) where OTC serves for detoxification of ammonia by the urea (ornithine) cycle. Urea synthesis and OTC activity occurs in a wide spectrum of vertebrate species for various reasons: amphibians after metamorphosis from the ammoniatelic state(.); turtles and tortoises for ammonia detoxific

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