19765707

Source:http://linkedlifedata.com/resource/pubmed/id/19765707

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0019425, umls-concept:C0026882, umls-concept:C0039292, umls-concept:C0205198, umls-concept:C1314792, umls-concept:C1412058
pubmed:issue	1
pubmed:dateCreated	2010-3-1
pubmed:abstractText	Inherited low levels of high density lipoprotein (HDL) cholesterol may be due to mutations in the genes encoding the ATP-binding cassette transporter A1 (ABCA1), apolipoprotein (apo) A-I or lecithin:cholesterol acyltransferase (LCAT).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0242543
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/ATP binding cassette transporter 1, http://linkedlifedata.com/resource/pubmed/chemical/ATP-Binding Cassette Transporters, http://linkedlifedata.com/resource/pubmed/chemical/Cholesterol, HDL, http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	1879-1484
pubmed:author	pubmed-author:BergeKnut ErikKE, pubmed-author:CameronJamieJ, pubmed-author:HalvorsenBenteB, pubmed-author:KulsethMari AnnMA, pubmed-author:LerenTrond PTP, pubmed-author:RanheimTrineT
pubmed:issnType	Electronic
pubmed:volume	209
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	163-6
pubmed:meshHeading	pubmed-meshheading:19765707-ATP-Binding Cassette Transporters, pubmed-meshheading:19765707-Adult, pubmed-meshheading:19765707-Amino Acid Substitution, pubmed-meshheading:19765707-Cholesterol, HDL, pubmed-meshheading:19765707-Codon, Nonsense, pubmed-meshheading:19765707-DNA Mutational Analysis, pubmed-meshheading:19765707-Heterozygote, pubmed-meshheading:19765707-Humans, pubmed-meshheading:19765707-Male, pubmed-meshheading:19765707-Mutation, Missense, pubmed-meshheading:19765707-Norway, pubmed-meshheading:19765707-Pedigree, pubmed-meshheading:19765707-Tangier Disease
pubmed:year	2010
pubmed:articleTitle	Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C.
pubmed:affiliation	Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.
pubmed:publicationType	Journal Article, Case Reports