Linked Life Data

19766248

Source:http://linkedlifedata.com/resource/pubmed/id/19766248

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2009-11-9
pubmed:abstractText
Two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) resulting from the microtubule associated protein tau (MAPT) gene IVS10+16C>T splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1878-5883
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
287
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
253-6
pubmed:dateRevised
2010-4-8
pubmed:meshHeading
pubmed-meshheading:19766248-Atrophy, pubmed-meshheading:19766248-Base Sequence, pubmed-meshheading:19766248-Brain, pubmed-meshheading:19766248-Brain Chemistry, pubmed-meshheading:19766248-Cytosine, pubmed-meshheading:19766248-DNA, pubmed-meshheading:19766248-DNA Mutational Analysis, pubmed-meshheading:19766248-Disease Progression, pubmed-meshheading:19766248-Frontal Lobe, pubmed-meshheading:19766248-Frontotemporal Dementia, pubmed-meshheading:19766248-Genetic Markers, pubmed-meshheading:19766248-Genetic Predisposition to Disease, pubmed-meshheading:19766248-Genetic Testing, pubmed-meshheading:19766248-Genotype, pubmed-meshheading:19766248-Humans, pubmed-meshheading:19766248-Inheritance Patterns, pubmed-meshheading:19766248-Magnetic Resonance Imaging, pubmed-meshheading:19766248-Male, pubmed-meshheading:19766248-Middle Aged, pubmed-meshheading:19766248-Phenotype, pubmed-meshheading:19766248-Point Mutation, pubmed-meshheading:19766248-RNA Splice Sites, pubmed-meshheading:19766248-Thymine, pubmed-meshheading:19766248-tau Proteins
pubmed:year
2009
pubmed:articleTitle
Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation.
pubmed:affiliation
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool L9 7LJ, United Kingdom. a.larner@thewaltoncentre.nhs.uk
pubmed:publicationType
Journal Article, Case Reports