7509683

Source:http://linkedlifedata.com/resource/pubmed/id/7509683

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015295, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0056889, umls-concept:C0205314, umls-concept:C0442726, umls-concept:C0679622, umls-concept:C0680043, umls-concept:C1511790, umls-concept:C1556085, umls-concept:C1710133
pubmed:issue	1
pubmed:dateCreated	1994-4-7
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9215429
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, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nucleic Acid Heteroduplexes
pubmed:status	MEDLINE
pubmed:issn	1059-7794
pubmed:author	pubmed-author:AchatzHH, pubmed-author:Bertele-HarmsRR, pubmed-author:DeufelAA, pubmed-author:DeufelTT, pubmed-author:GollaAA, pubmed-author:MeitingerTT, pubmed-author:RoscherA AAA
pubmed:issnType	Print
pubmed:volume	3
pubmed:geneSymbol	CFTR
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	64-6
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:7509683-Adolescent, pubmed-meshheading:7509683-Base Sequence, pubmed-meshheading:7509683-Cystic Fibrosis, pubmed-meshheading:7509683-Cystic Fibrosis Transmembrane Conductance Regulator, pubmed-meshheading:7509683-DNA, pubmed-meshheading:7509683-DNA Mutational Analysis, pubmed-meshheading:7509683-European Continental Ancestry Group, pubmed-meshheading:7509683-Exons, pubmed-meshheading:7509683-Female, pubmed-meshheading:7509683-Genes, pubmed-meshheading:7509683-Genetic Testing, pubmed-meshheading:7509683-Germany, pubmed-meshheading:7509683-Humans, pubmed-meshheading:7509683-Infant, Newborn, pubmed-meshheading:7509683-Male, pubmed-meshheading:7509683-Membrane Proteins, pubmed-meshheading:7509683-Molecular Sequence Data, pubmed-meshheading:7509683-Mutation, pubmed-meshheading:7509683-Nucleic Acid Heteroduplexes, pubmed-meshheading:7509683-Polymerase Chain Reaction
pubmed:year	1994
pubmed:articleTitle	Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
pubmed:affiliation	Abteilung für pädiatrische Genetik, Ludwigs-Maximilians-Universität, Munich, Germany.
pubmed:publicationType	Journal Article