Source:http://linkedlifedata.com/resource/pubmed/id/10094559
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1999-3-23
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pubmed:abstractText |
Alkaptonuria (aku), an inborn error of metabolism caused by the loss of homogentisate 1,2-dioxygenase (HGD), has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified. We used RT-PCR to amplify the Hgd cDNA from Hgd(aku)/Hgd(aku) mice. Two products shorter than the wild-type product were amplified. Restriction mapping and DNA sequencing were then used to identify the Hgd(aku) mouse mutation, found to be a single base change in a splice donor consensus sequence, causing exon skipping and frame-shifted products. This base change allowed us to create a non-radioactive genotyping assay for this allele.
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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:issn |
1059-7794
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
171
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:10094559-Alkaptonuria,
pubmed-meshheading:10094559-Animals,
pubmed-meshheading:10094559-Dioxygenases,
pubmed-meshheading:10094559-Disease Models, Animal,
pubmed-meshheading:10094559-Homogentisate 1,2-Dioxygenase,
pubmed-meshheading:10094559-Mice,
pubmed-meshheading:10094559-Mice, Inbred Strains,
pubmed-meshheading:10094559-Mutation,
pubmed-meshheading:10094559-Oxygenases,
pubmed-meshheading:10094559-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
1999
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pubmed:articleTitle |
Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
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pubmed:affiliation |
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA. manningk@ohsu.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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