11826028

Source:http://linkedlifedata.com/resource/pubmed/id/11826028

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0004135, umls-concept:C0017431, umls-concept:C0019425, umls-concept:C0205087, umls-concept:C0205198, umls-concept:C0205419, umls-concept:C0332162
pubmed:issue	1
pubmed:dateCreated	2002-2-4
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Adenine, http://linkedlifedata.com/resource/pubmed/chemical/Guanine
pubmed:status	MEDLINE
pubmed:month	Jan
pubmed:issn	1468-6244
pubmed:author	pubmed-author:BruscoAA, pubmed-author:FunaroAA, pubmed-author:GrossoEE, pubmed-author:LastJ IJI, pubmed-author:MigoneNN, pubmed-author:ParadisoM CMC, pubmed-author:PonzioGG, pubmed-author:SalutoAA, pubmed-author:SaviozziSS, pubmed-author:TaylorA MAM, pubmed-author:TrebiniFF
pubmed:issnType	Electronic
pubmed:volume	39
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	57-61
pubmed:dateRevised	2008-11-20
pubmed:meshHeading	pubmed-meshheading:11826028-Adenine, pubmed-meshheading:11826028-Adult, pubmed-meshheading:11826028-Ataxia Telangiectasia, pubmed-meshheading:11826028-Female, pubmed-meshheading:11826028-Genotype, pubmed-meshheading:11826028-Guanine, pubmed-meshheading:11826028-Heterozygote Detection, pubmed-meshheading:11826028-Humans, pubmed-meshheading:11826028-Male, pubmed-meshheading:11826028-Middle Aged, pubmed-meshheading:11826028-Mutagenesis, Insertional, pubmed-meshheading:11826028-Pedigree, pubmed-meshheading:11826028-Point Mutation
pubmed:year	2002
pubmed:articleTitle	A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't