19471582

Source:http://linkedlifedata.com/resource/pubmed/id/19471582

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0240620, umls-concept:C0425375, umls-concept:C0679622, umls-concept:C0796362, umls-concept:C1283195, umls-concept:C1822725
pubmed:dateCreated	2009-5-27
pubmed:abstractText	To investigate the genetic basis of Marinesco-Sjogren syndrome (MSS) in consanguineous Pakistani families.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-11101517, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-12356756, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-12876830, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-14512967, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-14792949, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-15543429, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-16282977, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-16282978, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-17026626, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-17309654, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-18285827, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-2813076, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-3687875, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-6585139, http://linkedlifedata.com/resource/pubmed/commentcorrection/19471582-8056435
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Guanine Nucleotide Exchange Factors, http://linkedlifedata.com/resource/pubmed/chemical/SIL1 protein, human
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:Amiri-KordestaniLalehL, pubmed-author:ButtTariqT, pubmed-author:HejtmancikJ FieldingJF, pubmed-author:JiaoXiaodongX, pubmed-author:KaulHaibaH, pubmed-author:RiazuddinS AmerSA, pubmed-author:RiazuddinSheikhS
pubmed:issnType	Electronic
pubmed:volume	15
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1050-6
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:19471582-Adolescent, pubmed-meshheading:19471582-Brain, pubmed-meshheading:19471582-Child, pubmed-meshheading:19471582-Chromosomes, Human, Pair 5, pubmed-meshheading:19471582-Consanguinity, pubmed-meshheading:19471582-DNA Mutational Analysis, pubmed-meshheading:19471582-Female, pubmed-meshheading:19471582-Genetic Linkage, pubmed-meshheading:19471582-Guanine Nucleotide Exchange Factors, pubmed-meshheading:19471582-Humans, pubmed-meshheading:19471582-Male, pubmed-meshheading:19471582-Mutation, Missense, pubmed-meshheading:19471582-Pakistan, pubmed-meshheading:19471582-Pedigree, pubmed-meshheading:19471582-Spinocerebellar Degenerations, pubmed-meshheading:19471582-Tomography, X-Ray Computed
pubmed:year	2009
pubmed:articleTitle	Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
pubmed:affiliation	National Centre of Excellence in Molecular Biology, 87 West Canal Bank Road, Lahore 53700, Pakistan. amerriazuddin@ncemb.org
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't