| pubmed-article:3339136 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0008520 | lld:lifeskim |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0035298 | lld:lifeskim |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0018425 | lld:lifeskim |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0242610 | lld:lifeskim |
| pubmed-article:3339136 | lifeskim:mentions | umls-concept:C0678227 | lld:lifeskim |
| pubmed-article:3339136 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:3339136 | pubmed:dateCreated | 1988-3-18 | lld:pubmed |
| pubmed-article:3339136 | pubmed:abstractText | Gyrate atrophy of the choroid and retina (GA) is an autosomal recessive chorioretinal degeneration caused by deficiency of the mitochondrial matrix enzyme, ornithine-delta-aminotransferase (OAT). To study the molecular basis of the mutations causing GA, we cloned and sequenced the human OAT cDNA and determined the intron-exon arrangement of the structural gene. Using the cDNA template, we synthesized antisense RNA probes and performed RNase A protection experiments with RNA from four Lebanese GA patients. We found a probe-target mismatch at the 5' end of the first coding exon and amplified this region of the patients' genomic DNA using the polymerase chain reaction. Sequence analysis showed a G----A transition, changing the initiator ATG (methionine) codon to ATA. This mutation segregates with the GA allele in both pedigrees. Initiation of translation at the closest in-frame methionine codon would truncate OAT by 138 amino acids, eliminating the entire mitochondrial leader sequence and 113 amino acids of the mature peptide. | lld:pubmed |
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| pubmed-article:3339136 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3339136 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3339136 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:3339136 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3339136 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:3339136 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:ValleDD | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:MitchellG AGA | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:Der... | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:LooneyJJ | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:SteelGG | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:Kaiser-Kupfer... | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:DowlingCC | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:BrodyL CLC | lld:pubmed |
| pubmed-article:3339136 | pubmed:author | pubmed-author:SuchanekMM | lld:pubmed |
| pubmed-article:3339136 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3339136 | pubmed:volume | 81 | lld:pubmed |
| pubmed-article:3339136 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3339136 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3339136 | pubmed:pagination | 630-3 | lld:pubmed |
| pubmed-article:3339136 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:3339136 | pubmed:meshHeading | pubmed-meshheading:3339136-... | lld:pubmed |
| pubmed-article:3339136 | pubmed:year | 1988 | lld:pubmed |
| pubmed-article:3339136 | pubmed:articleTitle | An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. | lld:pubmed |
| pubmed-article:3339136 | pubmed:affiliation | Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205. | lld:pubmed |
| pubmed-article:3339136 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3339136 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:3339136 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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