17875872

Source:http://linkedlifedata.com/resource/pubmed/id/17875872

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0012634, umls-concept:C0019904, umls-concept:C0030705, umls-concept:C0162568, umls-concept:C0205210, umls-concept:C0205474, umls-concept:C0332257, umls-concept:C2827447
pubmed:issue	9
pubmed:dateCreated	2007-9-18
pubmed:abstractText	To study the mutations in the ferrochelatase gene (FECH) and the phenotypic expression of erythropoietic protoporphyria (EPP) in a group of Spanish patients.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/17875872-17875886
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0372433
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Ferrochelatase, http://linkedlifedata.com/resource/pubmed/chemical/Protoporphyrins
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0003-987X
pubmed:author	pubmed-author:BadenasCeliaC, pubmed-author:Enríquez-SalamancaRafaelR, pubmed-author:HerreroCarmenC, pubmed-author:LechaMarioM, pubmed-author:MéndezManuelM, pubmed-author:SerranoPatriciaP, pubmed-author:To-FiguerasJordiJ
pubmed:issnType	Print
pubmed:volume	143
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1125-9
pubmed:dateRevised	2008-3-17
pubmed:meshHeading	pubmed-meshheading:17875872-Adolescent, pubmed-meshheading:17875872-Adult, pubmed-meshheading:17875872-Child, pubmed-meshheading:17875872-Child, Preschool, pubmed-meshheading:17875872-Female, pubmed-meshheading:17875872-Ferrochelatase, pubmed-meshheading:17875872-Homozygote, pubmed-meshheading:17875872-Humans, pubmed-meshheading:17875872-Male, pubmed-meshheading:17875872-Mutation, pubmed-meshheading:17875872-Phenotype, pubmed-meshheading:17875872-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:17875872-Protoporphyria, Erythropoietic, pubmed-meshheading:17875872-Protoporphyrins
pubmed:year	2007
pubmed:articleTitle	Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
pubmed:affiliation	Department of Dermatology, Hospital Clinic of Barcelona, University of Barcelona, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't