16061558

Source:http://linkedlifedata.com/resource/pubmed/id/16061558

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0026882, umls-concept:C0027651, umls-concept:C0027789, umls-concept:C0031437, umls-concept:C0337810, umls-concept:C1419909, umls-concept:C1441547, umls-concept:C2827666
pubmed:issue	8
pubmed:dateCreated	2005-8-2
pubmed:abstractText	Mutations in genes coding for the mitochondrial complex II succinate dehydrogenase (SDH) subunits cause familial neural crest derived (NCD) tumours.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/SDHD protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Succinate Dehydrogenase
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	1468-6244
pubmed:author	pubmed-author:ErcoliniRR, pubmed-author:FerruzziPP, pubmed-author:GaglianòM SMS, pubmed-author:GensiniFF, pubmed-author:GenuardiMM, pubmed-author:GuerriniLL, pubmed-author:LaneA EAE, pubmed-author:MannelliMM, pubmed-author:MascalchiMM, pubmed-author:PinzaniPP, pubmed-author:PratesiCC, pubmed-author:SestiniRR, pubmed-author:SimePP
pubmed:issnType	Electronic
pubmed:volume	42
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	e52
pubmed:dateRevised	2008-11-20
pubmed:meshHeading	pubmed-meshheading:16061558-Adult, pubmed-meshheading:16061558-Aged, pubmed-meshheading:16061558-Chromosome Segregation, pubmed-meshheading:16061558-Codon, Nonsense, pubmed-meshheading:16061558-DNA Mutational Analysis, pubmed-meshheading:16061558-Female, pubmed-meshheading:16061558-Founder Effect, pubmed-meshheading:16061558-Genetic Predisposition to Disease, pubmed-meshheading:16061558-Genomic Imprinting, pubmed-meshheading:16061558-Haplotypes, pubmed-meshheading:16061558-Humans, pubmed-meshheading:16061558-Italy, pubmed-meshheading:16061558-Loss of Heterozygosity, pubmed-meshheading:16061558-Male, pubmed-meshheading:16061558-Membrane Proteins, pubmed-meshheading:16061558-Microsatellite Repeats, pubmed-meshheading:16061558-Middle Aged, pubmed-meshheading:16061558-Paraganglioma, pubmed-meshheading:16061558-Pedigree, pubmed-meshheading:16061558-Phenotype, pubmed-meshheading:16061558-Succinate Dehydrogenase
pubmed:year	2005
pubmed:articleTitle	Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.
pubmed:affiliation	Section of Endocrinology, Department of Clinical Physiopathology, University of Florence Medical School, Florence, Italy.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't