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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-4-20
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pubmed:abstractText |
Previous studies have shown an association between chronic pancreatitis (CP) and mutations, especially the N34S mutation, in the serine protease inhibitor Kazal type 1 (SPINK1) gene. But the underlying molecular mechanisms are unknown. The aberrant splicing caused by the cosegregating intronic mutations might play a role, but this hypothesis has not been tested. We here examined the messenger RNA sequences of the SPINK1 gene in patients carrying the mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1536-4828
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
423-8
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17446841-Adolescent,
pubmed-meshheading:17446841-Adult,
pubmed-meshheading:17446841-Alternative Splicing,
pubmed-meshheading:17446841-Amino Acid Sequence,
pubmed-meshheading:17446841-Asparagine,
pubmed-meshheading:17446841-Base Sequence,
pubmed-meshheading:17446841-Carrier Proteins,
pubmed-meshheading:17446841-Cloning, Molecular,
pubmed-meshheading:17446841-DNA Mutational Analysis,
pubmed-meshheading:17446841-Exons,
pubmed-meshheading:17446841-Female,
pubmed-meshheading:17446841-Heterozygote,
pubmed-meshheading:17446841-Homozygote,
pubmed-meshheading:17446841-Humans,
pubmed-meshheading:17446841-Introns,
pubmed-meshheading:17446841-Male,
pubmed-meshheading:17446841-Middle Aged,
pubmed-meshheading:17446841-Molecular Sequence Data,
pubmed-meshheading:17446841-Mutation,
pubmed-meshheading:17446841-Pancreatitis, Chronic,
pubmed-meshheading:17446841-Promoter Regions, Genetic,
pubmed-meshheading:17446841-RNA, Messenger,
pubmed-meshheading:17446841-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17446841-Sequence Analysis, Protein,
pubmed-meshheading:17446841-Serine
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pubmed:year |
2007
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pubmed:articleTitle |
N34S mutation in the SPINK1 gene is not associated with alternative splicing.
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pubmed:affiliation |
Division of Gastroenterology, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan. amasamune@int3.med.tohoku.ac.jp
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pubmed:publicationType |
Journal Article
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