19550280

Source:http://linkedlifedata.com/resource/pubmed/id/19550280

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0001675, umls-concept:C0010674, umls-concept:C0017262, umls-concept:C0017431, umls-concept:C0019425, umls-concept:C0031437, umls-concept:C0185117, umls-concept:C0205198, umls-concept:C0522498, umls-concept:C1314792, umls-concept:C1533148, umls-concept:C2911684
pubmed:issue	5
pubmed:dateCreated	2009-6-24
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8608542
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:month	Jul
pubmed:issn	1536-4828
pubmed:author	pubmed-author:BeginiPaolaP, pubmed-author:CapotondiCarloC, pubmed-author:CapursoGabrieleG, pubmed-author:ChessaLucianaL, pubmed-author:Delle FaveGianfrancoG, pubmed-author:LibiFabioF, pubmed-author:MargagnoniGiovannaG, pubmed-author:MarignaniMassimoM, pubmed-author:PanzutoFrancescoF, pubmed-author:PianeMariaM, pubmed-author:Sbrozzi-VanniAndreaA
pubmed:issnType	Electronic
pubmed:volume	38
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	599-601
pubmed:meshHeading	pubmed-meshheading:19550280-Adult, pubmed-meshheading:19550280-Cystic Fibrosis, pubmed-meshheading:19550280-Cystic Fibrosis Transmembrane Conductance Regulator, pubmed-meshheading:19550280-Family Health, pubmed-meshheading:19550280-Genotype, pubmed-meshheading:19550280-Heterozygote, pubmed-meshheading:19550280-Humans, pubmed-meshheading:19550280-Male, pubmed-meshheading:19550280-Phenotype, pubmed-meshheading:19550280-Point Mutation
pubmed:year	2009
pubmed:articleTitle	Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't