17724181

Source:http://linkedlifedata.com/resource/pubmed/id/17724181

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0014507, umls-concept:C0035334, umls-concept:C0241764, umls-concept:C2827447
pubmed:issue	9
pubmed:dateCreated	2007-8-28
pubmed:abstractText	To perform a nation-wide elucidation of the prevalence and the mutation spectrum in X-linked retinitis pigmentosa (XLRP), and to make genotype-phenotype comparisons.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides..., http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RP2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/RPGR protein, human
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0146-0404
pubmed:author	pubmed-author:HartigMonikaM, pubmed-author:HellingerRosaR, pubmed-author:MeitingerThomasT, pubmed-author:ProkischHolgerH, pubmed-author:RosenbergThomasT
pubmed:issnType	Print
pubmed:volume	48
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	4012-8
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:17724181-Adolescent, pubmed-meshheading:17724181-Adult, pubmed-meshheading:17724181-Aged, pubmed-meshheading:17724181-Aged, 80 and over, pubmed-meshheading:17724181-Alternative Splicing, pubmed-meshheading:17724181-Child, pubmed-meshheading:17724181-Child, Preschool, pubmed-meshheading:17724181-DNA Mutational Analysis, pubmed-meshheading:17724181-Denmark, pubmed-meshheading:17724181-Eye Proteins, pubmed-meshheading:17724181-Female, pubmed-meshheading:17724181-Genetic Diseases, X-Linked, pubmed-meshheading:17724181-Genetic Testing, pubmed-meshheading:17724181-Genotype, pubmed-meshheading:17724181-Heterozygote, pubmed-meshheading:17724181-Humans, pubmed-meshheading:17724181-Infant, pubmed-meshheading:17724181-Infant, Newborn, pubmed-meshheading:17724181-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:17724181-Male, pubmed-meshheading:17724181-Membrane Proteins, pubmed-meshheading:17724181-Middle Aged, pubmed-meshheading:17724181-Molecular Epidemiology, pubmed-meshheading:17724181-Phenotype, pubmed-meshheading:17724181-Prevalence, pubmed-meshheading:17724181-Registries, pubmed-meshheading:17724181-Retinitis Pigmentosa
pubmed:year	2007
pubmed:articleTitle	A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
pubmed:affiliation	Institute of Human Genetics, Technical University of Munich, Munich, Germany. prokisch@gsf.de
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't