12771253

Source:http://linkedlifedata.com/resource/pubmed/id/12771253

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0002726, umls-concept:C0032923, umls-concept:C0205419, umls-concept:C0598429
pubmed:issue	10
pubmed:dateCreated	2003-5-28
pubmed:abstractText	To describe the clinical, radiologic, and pathologic findings of a kindred with oculoleptomeningeal amyloidosis and a newly associated transthyretin mutation.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Prealbumin
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1526-632X
pubmed:author	pubmed-author:BensonM DMD, pubmed-author:BlevinsGG, pubmed-author:DonatJ RJR, pubmed-author:FladelandDD, pubmed-author:Hamidi AslKK, pubmed-author:HarderSS, pubmed-author:MacaulayRR, pubmed-author:YamashitaTT, pubmed-author:YazakiMM
pubmed:issnType	Electronic
pubmed:day	27
pubmed:volume	60
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1625-30
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:12771253-Adult, pubmed-meshheading:12771253-Aged, pubmed-meshheading:12771253-Amino Acid Substitution, pubmed-meshheading:12771253-Amyloidosis, Familial, pubmed-meshheading:12771253-DNA Mutational Analysis, pubmed-meshheading:12771253-Epilepsy, Complex Partial, pubmed-meshheading:12771253-Fatal Outcome, pubmed-meshheading:12771253-Female, pubmed-meshheading:12771253-Genes, Dominant, pubmed-meshheading:12771253-Humans, pubmed-meshheading:12771253-Male, pubmed-meshheading:12771253-Meninges, pubmed-meshheading:12771253-Middle Aged, pubmed-meshheading:12771253-Mutation, Missense, pubmed-meshheading:12771253-Pedigree, pubmed-meshheading:12771253-Point Mutation, pubmed-meshheading:12771253-Polymorphism, Restriction Fragment Length, pubmed-meshheading:12771253-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:12771253-Prealbumin, pubmed-meshheading:12771253-Status Epilepticus, pubmed-meshheading:12771253-Vitreous Body
pubmed:year	2003
pubmed:articleTitle	Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
pubmed:affiliation	Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
pubmed:publicationType	Journal Article, Case Reports