12928282

Source:http://linkedlifedata.com/resource/pubmed/id/12928282

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0205210, umls-concept:C0271091, umls-concept:C0332281, umls-concept:C0337810, umls-concept:C1419764, umls-concept:C2348519
pubmed:issue	9
pubmed:dateCreated	2003-8-20
pubmed:abstractText	To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-10234514, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-10415464, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-10458173, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-10533068, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-10922205, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-11035549, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-11222545, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-11384589, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-2376375, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-2730397, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-3377039, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-3566604, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-7662639, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-8449671, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-8600886, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-8739686, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-9326935, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-9618178, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-9699564, http://linkedlifedata.com/resource/pubmed/commentcorrection/12928282-9760195
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0421041
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/RS1 protein, human
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0007-1161
pubmed:author	pubmed-author:BanfiSS, pubmed-author:BrancatoRR, pubmed-author:CennamoGG, pubmed-author:CiccodicolaAA, pubmed-author:ManittoM PMP, pubmed-author:NestiAA, pubmed-author:RinaldiEE, pubmed-author:SimonelliFF, pubmed-author:TestaFF, pubmed-author:ZivielloCC, pubmed-author:de CrecchioGG
pubmed:issnType	Print
pubmed:volume	87
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1130-4
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:12928282-Adult, pubmed-meshheading:12928282-Age of Onset, pubmed-meshheading:12928282-Child, pubmed-meshheading:12928282-Child, Preschool, pubmed-meshheading:12928282-Electroretinography, pubmed-meshheading:12928282-Eye Proteins, pubmed-meshheading:12928282-Genotype, pubmed-meshheading:12928282-Humans, pubmed-meshheading:12928282-Italy, pubmed-meshheading:12928282-Male, pubmed-meshheading:12928282-Mutation, Missense, pubmed-meshheading:12928282-Pedigree, pubmed-meshheading:12928282-Phenotype, pubmed-meshheading:12928282-Retinoschisis
pubmed:year	2003
pubmed:articleTitle	Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
pubmed:affiliation	Department of Ophthalmology, Seconda Università di Napoli, Naples, Italy. Telethon Institute of Genetics and Medicine (TIGEM), Italy. franctes@tin.it
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't