19218993

Source:http://linkedlifedata.com/resource/pubmed/id/19218993

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0035334, umls-concept:C0175668, umls-concept:C0205314, umls-concept:C0241764, umls-concept:C0449258, umls-concept:C0679622, umls-concept:C1419623
pubmed:issue	3
pubmed:dateCreated	2009-3-16
pubmed:abstractText	To report phenotypic progression for a novel mutation in the RPGRgene causing X-linked retinitis pigmentosa (RP), and describe the phenotype in affected males and females.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8703986
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RPGR protein, human
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	1476-5454
pubmed:author	pubmed-author:Al-MaskariAA, pubmed-author:McKibbinMM, pubmed-author:O'gradyAA, pubmed-author:PalBB
pubmed:issnType	Electronic
pubmed:volume	23
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	519-21
pubmed:meshHeading	pubmed-meshheading:19218993-Adolescent, pubmed-meshheading:19218993-Adult, pubmed-meshheading:19218993-Age Factors, pubmed-meshheading:19218993-Aged, pubmed-meshheading:19218993-DNA Mutational Analysis, pubmed-meshheading:19218993-Disease Progression, pubmed-meshheading:19218993-Eye Proteins, pubmed-meshheading:19218993-Female, pubmed-meshheading:19218993-Genetic Diseases, X-Linked, pubmed-meshheading:19218993-Humans, pubmed-meshheading:19218993-Male, pubmed-meshheading:19218993-Middle Aged, pubmed-meshheading:19218993-Mutation, pubmed-meshheading:19218993-Myopia, pubmed-meshheading:19218993-Pedigree, pubmed-meshheading:19218993-Phenotype, pubmed-meshheading:19218993-Refraction, Ocular, pubmed-meshheading:19218993-Retinitis Pigmentosa, pubmed-meshheading:19218993-Sex Factors, pubmed-meshheading:19218993-Visual Acuity, pubmed-meshheading:19218993-Visual Fields, pubmed-meshheading:19218993-Young Adult
pubmed:year	2009
pubmed:articleTitle	Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
pubmed:affiliation	Department of Ophthalmology, St James's University Hospital, Leeds, UK.
pubmed:publicationType	Journal Article