Source:http://linkedlifedata.com/resource/pubmed/id/16460442
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2006-2-7
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pubmed:abstractText |
Intrachromosomal, homologous recombination of the duplicon int22h-1 with int22h-2 or int22h-3 causes inversions accounting for 45% of severe hemophilia A, hence the belief that int22h-2 and int22h-3 are in opposite orientation to int22h-1. However, inversions involving int22h-2 are five times rarer than those involving its virtually identical copy: int22h-3. Recent sequencing has indicated that int22h-2 and int22h-3 form the internal part of the arms of an imperfect palindrome so that int22h-2, in the centromeric arm, has the same orientation as int22h-1 and, upon recombination with int22h-1, should produce deletions and duplications but not inversions.
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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 |
Mar
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pubmed:issn |
1538-7933
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
591-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16460442-Base Sequence,
pubmed-meshheading:16460442-Chromosome Inversion,
pubmed-meshheading:16460442-Chromosomes, Human, X,
pubmed-meshheading:16460442-DNA Mutational Analysis,
pubmed-meshheading:16460442-Factor VIII,
pubmed-meshheading:16460442-Female,
pubmed-meshheading:16460442-Hemophilia A,
pubmed-meshheading:16460442-Humans,
pubmed-meshheading:16460442-Introns,
pubmed-meshheading:16460442-Male,
pubmed-meshheading:16460442-Molecular Sequence Data,
pubmed-meshheading:16460442-RNA, Messenger,
pubmed-meshheading:16460442-Recombination, Genetic,
pubmed-meshheading:16460442-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2006
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pubmed:articleTitle |
Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.
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pubmed:affiliation |
Department of Medical and Molecular Genetics, King's College School of Medicine, London, UK. richard.bagnall@genetics.kcl.ac.uk
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pubmed:publicationType |
Journal Article
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