7520799

Source:http://linkedlifedata.com/resource/pubmed/id/7520799

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015295, umls-concept:C0015576, umls-concept:C0019904, umls-concept:C0205314, umls-concept:C0337794, umls-concept:C0599155, umls-concept:C0679622, umls-concept:C0680043, umls-concept:C1413365
pubmed:issue	4
pubmed:dateCreated	1994-9-27
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9208958
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/Membrane Proteins
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	0964-6906
pubmed:author	pubmed-author:ClaustresMM, pubmed-author:DemailleJJ, pubmed-author:DesgeorgesMM, pubmed-author:MalzacPP, pubmed-author:RomeyM CMC, pubmed-author:SarlesJJ
pubmed:issnType	Print
pubmed:volume	3
pubmed:geneSymbol	CFTR
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	661-2
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:7520799-Armenia, pubmed-meshheading:7520799-Base Sequence, pubmed-meshheading:7520799-Child, Preschool, pubmed-meshheading:7520799-Cystic Fibrosis, pubmed-meshheading:7520799-Cystic Fibrosis Transmembrane Conductance Regulator, pubmed-meshheading:7520799-DNA Mutational Analysis, pubmed-meshheading:7520799-Electrophoresis, Polyacrylamide Gel, pubmed-meshheading:7520799-Ethnic Groups, pubmed-meshheading:7520799-Exons, pubmed-meshheading:7520799-Female, pubmed-meshheading:7520799-France, pubmed-meshheading:7520799-Genes, pubmed-meshheading:7520799-Humans, pubmed-meshheading:7520799-Infant, Newborn, pubmed-meshheading:7520799-Membrane Proteins, pubmed-meshheading:7520799-Molecular Sequence Data, pubmed-meshheading:7520799-Point Mutation, pubmed-meshheading:7520799-Polymerase Chain Reaction
pubmed:year	1994
pubmed:articleTitle	Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
pubmed:affiliation	Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't