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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2003-3-12
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pubmed:abstractText |
Total intestinal aganglionosis (TIA) extending from the duodenum to the rectum is the most rare form of Hirschprung's disease (HSCR) and usually is fatal. RET is the major gene associated with HSCR, and germline mutations of this gene account for up 50% of familial and up to 15 to 20% of sporadic cases in HSCR. The aim of this study was to investigate DNA variants in the RET gene in TIA patients using the WAVE DNA Fragment Analysis System.
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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 |
Mar
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pubmed:issn |
1531-5037
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2003, Elsevier Science (USA). All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
38
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
497-501
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:12632375-Amino Acid Substitution,
pubmed-meshheading:12632375-Chromatography, High Pressure Liquid,
pubmed-meshheading:12632375-Codon, Nonsense,
pubmed-meshheading:12632375-DNA Mutational Analysis,
pubmed-meshheading:12632375-Exons,
pubmed-meshheading:12632375-Female,
pubmed-meshheading:12632375-Heteroduplex Analysis,
pubmed-meshheading:12632375-Hirschsprung Disease,
pubmed-meshheading:12632375-Humans,
pubmed-meshheading:12632375-Infant, Newborn,
pubmed-meshheading:12632375-Introns,
pubmed-meshheading:12632375-Male,
pubmed-meshheading:12632375-Mutation, Missense,
pubmed-meshheading:12632375-Oncogene Proteins,
pubmed-meshheading:12632375-Polymerase Chain Reaction,
pubmed-meshheading:12632375-Polymorphism, Genetic,
pubmed-meshheading:12632375-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:12632375-Receptor Protein-Tyrosine Kinases
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pubmed:year |
2003
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pubmed:articleTitle |
Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.
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pubmed:affiliation |
Children's Research Centre, Our Lady's Hospital for Sick Children, University College Dublin, Crumlin, Ireland.
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pubmed:publicationType |
Journal Article
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