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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2-3
|
pubmed:dateCreated |
1995-3-29
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pubmed:databankReference | |
pubmed:abstractText |
In addition to the three alleles commonly responsible for the protein polymorphism of human deoxyribonuclease I, a mutation encoded by a fourth allele, DNASE1*4, was detected by isoelectric focusing. All 8 exons covering the entire open reading frame of the human DNase I gene were amplified by the polymerase chain reaction and subjected to direct sequencing. Only one nucleotide substitution, a C-to-G transition (CAG-->GAG), in the codon for amino acid 9 of the mature enzyme was found. This substitution resulted in the replacement of Gln with Glu (Q9E).
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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 |
Feb
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pubmed:issn |
0014-5793
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
13
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pubmed:volume |
359
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
211-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7867802-Alleles,
pubmed-meshheading:7867802-Amino Acid Sequence,
pubmed-meshheading:7867802-Animals,
pubmed-meshheading:7867802-Base Sequence,
pubmed-meshheading:7867802-DNA Mutational Analysis,
pubmed-meshheading:7867802-DNA Primers,
pubmed-meshheading:7867802-Deoxyribonuclease I,
pubmed-meshheading:7867802-Humans,
pubmed-meshheading:7867802-Molecular Sequence Data,
pubmed-meshheading:7867802-Mutation,
pubmed-meshheading:7867802-Polymerase Chain Reaction,
pubmed-meshheading:7867802-Polymorphism, Genetic,
pubmed-meshheading:7867802-Sequence Homology, Amino Acid
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pubmed:year |
1995
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pubmed:articleTitle |
The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide substitution that generates the fourth allele.
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pubmed:affiliation |
Department of Legal Medicine, Fukui Medical School, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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