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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7
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pubmed:dateCreated |
1987-8-4
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pubmed:abstractText |
Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosome OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0146-0404
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1037-42
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:3596985-Chromosome Mapping,
pubmed-meshheading:3596985-Chromosomes, Human, Pair 10,
pubmed-meshheading:3596985-DNA,
pubmed-meshheading:3596985-Genes,
pubmed-meshheading:3596985-Humans,
pubmed-meshheading:3596985-Hybrid Cells,
pubmed-meshheading:3596985-Nucleic Acid Hybridization,
pubmed-meshheading:3596985-Ornithine-Oxo-Acid Transaminase,
pubmed-meshheading:3596985-Transaminases,
pubmed-meshheading:3596985-X Chromosome
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pubmed:year |
1987
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pubmed:articleTitle |
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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