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Ornithine Transcarbamylase:: Basic Science and Clinical Considerations
 
 
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Ornithine Transcarbamylase:: Basic Science and Clinical Considerations [Hardcover]

Philip J. Snodgrass (Author)

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Book Description

1402076835 978-1402076831 November 30, 2003 1
Ornithine Transcarbamylase: Basic Science and Clinical Considerations, written by a leading expert on OTC, for the first time assembles and analyzes more than 40 years of basic science and clinical research. It will be the definitive resource on the topic for pediatricians, geneticists, 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.

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Inside This Book (learn more)
First Sentence:
The human OTC gene has been localized to the short arm of the X chromosome at Xp21.1(1), approximately 12 centimorgans (cM) closer to the centromere than the gene for Duchenne muscular dystrophy. Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
urinary orotic acid excretion, ornithine binding site, thine transcarbamylase deficiency, ornithine binds, ornithine transcarbamylase gene, transcarbamvlase deficiency, acid codon change, orotate excretion, late onset males, alanine loading, spf mouse, del exons, orotic acid levels, ornithine carbamoyltransferase deficiency, spf males, congenital hyperammonemia, spf mice, mature monomer, sparse fur mouse, invariant bands, urea cycle enzymes, arginine biosynthetic pathway, splice error, lysinuric protein intolerance, hyperammonemic encephalopathy
Key Phrases - Capitalized Phrases (CAPs): (learn more)
Case Clinical, Blood Age, Enzyme Possible, Amer Soc Biochem, Molec Biol, Mutation Mutation
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