| Human hyperargininemia: a mutation not expressed in skin fibroblasts? | |
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MedLine Citation:
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PMID: 879168 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Arginase specific activity in the fibroblasts from three hyperargininemia patients is similar to that in controls. Kinetic features, pH-optimum, effect of Mn++, apparent Km values and DEAE- and CM-cellulose chromatography isozymes are identical in either cell type. The arginase gene functional in fibroblasts may be unrelated to the cause of hyperargininemia in humans. The latter mutation may solely affect the arginase of erythrocytes. |
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Authors:
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A F Van Elsen; J G Leroy |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of human genetics Volume: 29 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1977 Jul |
Date Detail:
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Created Date: 1977-08-25 Completed Date: 1977-08-25 Revised Date: 2010-09-03 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 350-5 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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enzymology,
genetics* Arginase / blood Arginine / blood* Cells, Cultured Erythrocytes / enzymology Female Fibroblasts / enzymology Humans Hyperargininemia* Isoenzymes / blood, deficiency Male Mutation* Skin / cytology |
| Chemical | |
Reg. No./Substance:
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0/Isoenzymes; 74-79-3/Arginine; EC 3.5.3.1/Arginase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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