Citations for
1OAT, OATD
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C, Warter JM.
J Neurol Neurosurg Psychiatry 78(6):656-7. Epub 2006 Nov 6. No abstract available. 2007
2OAT
Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine.
Storici P, Capitani G, Müller R, Schirmer T, Jansonius JN.
J Mol Biol 285(1):297-309. 1999
3OAT
Pyridoxine-responsive gyrate atrophy of the choroid and retina : clinical and biochemical correlates of the mutation A226V.
Michaud J, et al.
Am J Hum Genet 56 : 616-622. 1995
4OAT
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
Kobayashi T, et al.
Am J Hum Genet 57 : 284-291. 1995
5OAT
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
Brody LC, et al.
J Biol Chem 267 : 3302-3307. 1992
6OAT
Strand-separating conformational polymorphism analysis : efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
Michaud J, et al.
Genomics 13 : 389-394. 1992
7OAT
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.
Mashima Y, et al.
Am J Hum Genet 51 : 81-91. 1992
8OAT
A deletion in the ornithine aminotransferase gene in gyrate atrophy.
Akaki Y, et al.
J Biol Chem 267 : 12950-12954. 1992
9OAT
Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.
Park JK, et al.
Genomics 14 : 553-554. 1992
10OAT
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
Mashima Y, et al.
Hum Genet 90 : 305-307. 1992
11OAT
A polymorphic synonymous mutation in human ornithine-delta- aminotransferase (N378N).
Martin LS, et al.
Nucleic Acids Res 19 : 1962. 1991
12OAT
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Ramesh V, et al.
Mol Biol Med 8 : 81-93. 1991
13OAT
Improved molecular diagnostics for ornithine transcarbamylase deficiency.
Grompe M, et al.
Am J Hum Genet 48 : 212-222. 1991
14OAT
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase : a role for Alu elements in human mutation.
Mitchell GA, et al.
Proc Natl Acad Sci U S A 88 : 815-819. 1991
15OAT
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
McClatchey AI, et al.
Am J Hum Genet 47 : 790-794. 1990
16OAT
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Mitchell GA, et al.
Proc Natl Acad Sci U S A 86 : 197-201. 1989
17OAT
The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.
Wu J, Ramesh V, Kidd JR, Castiglione CM, Myers S, Carson N, Anderson L, Gusella JF, Simpson NE, Kidd KK.
Cytogenet Cell Genet 48 : 126-127. 1988
18OAT, TBC1D25
Human ornithine-delta-aminotransferase.
Mitchell GA, et al.
J Biol Chem 263 : 14288-14295. 1988
19OAT, TBC1D25
Gyrate atrophy of the choroid and retina : assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.
O'Donnell JJ, et al.
Am J Hum Genet 43 : 922-928. 1988
20OAT, TBC1D25
Localization of the ornithine transferase gene and related sequences on two human chromosomes.
Ramesh V, et al.
Hum Genet 76 : 121-126. 1987
21OAT
Ornithine aminotransferase (OAT) maps to human chromosome 10 and mouse chromosome 7.
O'Donnell JJ, et al.
(HGM8) Cytogenet Cell Genet 40 : 716. 1985