Source:http://linkedlifedata.com/resource/pubmed/id/10721672
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2000-4-14
|
| pubmed:abstractText |
An NsiI polymorphic site has been found in the human long QT intronic transcript 1 (LIT1). In this transcript, we found a C-to-T transition, which was located between exons 10 and 11 of KVLQT1, and was confirmed by sequencing analysis. The allelic frequency of this polymorphism, was 0.82: 0.18 in Japanese individuals. Our novel polymorphism, combined with other polymorphisms, could be very useful in helping to determine whether the imprinting of LIT1 is disrupted in Beckwith-Wiedemann syndrome (BWS) or in human cancers.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1434-5161
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
45
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
96-7
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:10721672-Alleles,
pubmed-meshheading:10721672-Beckwith-Wiedemann Syndrome,
pubmed-meshheading:10721672-Chromosomes, Human, Pair 11,
pubmed-meshheading:10721672-Genomic Imprinting,
pubmed-meshheading:10721672-Humans,
pubmed-meshheading:10721672-Introns,
pubmed-meshheading:10721672-Polymerase Chain Reaction,
pubmed-meshheading:10721672-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:10721672-Polymorphism, Single Nucleotide
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
An NsiI RFLP in the human long QT intronic transcript 1 (LIT1).
|
| pubmed:affiliation |
Department of Biochemistry, Saga Medical School, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|