Molecular Basis of Ornithine Aminotransferase Deficiency in B-6-Responsive and -Nonresponsive Forms...
Molecular Basis of Ornithine Aminotransferase Deficiency in B-6-Responsive and -Nonresponsive Forms of Gyrate Atrophy
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Washington, DC: National Academy of Sciences of the United States of America
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Language
English
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Washington, DC: National Academy of Sciences of the United States of America
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Contents
Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine--oxoacid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) with consequent hyperornithinemia. Genetic het...
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Full title
Molecular Basis of Ornithine Aminotransferase Deficiency in B-6-Responsive and -Nonresponsive Forms of Gyrate Atrophy
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TN_cdi_crossref_citationtrail_10_1073_pnas_85_11_3777
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_citationtrail_10_1073_pnas_85_11_3777
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.85.11.3777
