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15371908
Source:
http://linkedlifedata.com/resource/pubmed/id/15371908
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0010674
,
umls-concept:C0026882
,
umls-concept:C0039593
,
umls-concept:C0332120
,
umls-concept:C1518101
,
umls-concept:C1524063
pubmed:issue
5
pubmed:dateCreated
2004-9-16
pubmed:abstractText
We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9815831
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/CFTR protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Cystic Fibrosis Transmembrane...
pubmed:status
MEDLINE
pubmed:issn
1098-3600
pubmed:author
pubmed-author:BartlettGeorge AGA
,
pubmed-author:BuyseInge MIM
,
pubmed-author:EngChristine MCM
,
pubmed-author:LurixPaulP
,
pubmed-author:McCarthySarah ESE
,
pubmed-author:OermannChristopherC
,
pubmed-author:PaceRobert PRP
,
pubmed-author:RoaBenjamin BBB
,
pubmed-author:SchmittEric SES
,
pubmed-author:VoDavidD
,
pubmed-author:WardPatricia APA
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
426-30
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:15371908-Child, Preschool
,
pubmed-meshheading:15371908-Cystic Fibrosis
,
pubmed-meshheading:15371908-Cystic Fibrosis Transmembrane Conductance Regulator
,
pubmed-meshheading:15371908-DNA Mutational Analysis
,
pubmed-meshheading:15371908-Exons
,
pubmed-meshheading:15371908-Female
,
pubmed-meshheading:15371908-Heterozygote
,
pubmed-meshheading:15371908-Hispanic Americans
,
pubmed-meshheading:15371908-Humans
,
pubmed-meshheading:15371908-Male
,
pubmed-meshheading:15371908-Mass Spectrometry
,
pubmed-meshheading:15371908-Mutation
,
pubmed-meshheading:15371908-Sequence Analysis
,
pubmed-meshheading:15371908-Spectrometry, Mass, Matrix-Assisted Laser...
pubmed:articleTitle
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
pubmed:affiliation
Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
pubmed:publicationType
Journal Article
,
Evaluation Studies