15371909

Source:http://linkedlifedata.com/resource/pubmed/id/15371909

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0025663, umls-concept:C0039421, umls-concept:C0205314, umls-concept:C0220908, umls-concept:C0679622, umls-concept:C1519941, umls-concept:C2911653
pubmed:issue	5
pubmed:dateCreated	2004-9-16
pubmed:abstractText	To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/5 M01 RR00071
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..., http://linkedlifedata.com/resource/pubmed/chemical/DNA Probes
pubmed:status	MEDLINE
pubmed:issn	1098-3600
pubmed:author	pubmed-author:DesnickRobert JRJ, pubmed-author:EdelmannLisaL, pubmed-author:FRYHH, pubmed-author:HashmiGhazalaG, pubmed-author:KornreichRuthR, pubmed-author:SongYuhuaY
pubmed:issnType	Print
pubmed:volume	6
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	431-8
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:15371909-Cystic Fibrosis, pubmed-meshheading:15371909-Cystic Fibrosis Transmembrane Conductance Regulator, pubmed-meshheading:15371909-DNA Mutational Analysis, pubmed-meshheading:15371909-DNA Probes, pubmed-meshheading:15371909-Genetic Testing, pubmed-meshheading:15371909-Heterozygote Detection, pubmed-meshheading:15371909-Humans, pubmed-meshheading:15371909-Mutation, pubmed-meshheading:15371909-Nucleic Acid Hybridization
pubmed:articleTitle	Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.
pubmed:affiliation	Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't, Validation Studies