17031298

Source:http://linkedlifedata.com/resource/pubmed/id/17031298

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0035331, umls-concept:C0070435, umls-concept:C0205314, umls-concept:C0439855, umls-concept:C0441471, umls-concept:C0449774, umls-concept:C0679622, umls-concept:C1421210
pubmed:issue	8
pubmed:dateCreated	2006-10-10
pubmed:abstractText	To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8309919
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Intermediate Filament Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Glycoproteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/peripherin
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	0275-004X
pubmed:author	pubmed-author:BüchiErnst RER, pubmed-author:HergersbergMartinM, pubmed-author:KryenbühlChristophC, pubmed-author:PajicBojanB, pubmed-author:SchipperIsaakI, pubmed-author:SpiegelRolandR, pubmed-author:Weigell-WeberMaikeM
pubmed:issnType	Print
pubmed:volume	26
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	947-53
pubmed:dateRevised	2006-12-15
pubmed:meshHeading	pubmed-meshheading:17031298-Adult, pubmed-meshheading:17031298-Aged, pubmed-meshheading:17031298-DNA Mutational Analysis, pubmed-meshheading:17031298-Exons, pubmed-meshheading:17031298-Female, pubmed-meshheading:17031298-Fluorescein Angiography, pubmed-meshheading:17031298-Genes, Dominant, pubmed-meshheading:17031298-Humans, pubmed-meshheading:17031298-Intermediate Filament Proteins, pubmed-meshheading:17031298-Male, pubmed-meshheading:17031298-Membrane Glycoproteins, pubmed-meshheading:17031298-Middle Aged, pubmed-meshheading:17031298-Mutation, pubmed-meshheading:17031298-Nerve Tissue Proteins, pubmed-meshheading:17031298-Pedigree, pubmed-meshheading:17031298-Polymerase Chain Reaction, pubmed-meshheading:17031298-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:17031298-Retinal Degeneration
pubmed:year	2006
pubmed:articleTitle	A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
pubmed:affiliation	Klinik Pallas, Department of Ophthalmology, Olten, Switzerland. bpajic@datacomm.ch
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't