20405025

Source:http://linkedlifedata.com/resource/pubmed/id/20405025

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0009691, umls-concept:C0015576, umls-concept:C0026882, umls-concept:C0240620, umls-concept:C0332281, umls-concept:C0425375, umls-concept:C0441748, umls-concept:C1414948
pubmed:dateCreated	2010-4-20
pubmed:abstractText	To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-11006246, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-11179024, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-11519376, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-11917274, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-12876830, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-15161861, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-15183095, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-15277496, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-15671291, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-15914629, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-17225135, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-17460281, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-17601931, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-17893665, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-20161816, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-20361013, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-2188914, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-3687875, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-6585139, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-7670469, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-8056435, http://linkedlifedata.com/resource/pubmed/commentcorrection/20405025-8670754
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/GALK1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Galactokinase
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:AkramJavedJ, pubmed-author:HejtmancikJ FieldingJF, pubmed-author:HusnainTayyabT, pubmed-author:KaulHaibaH, pubmed-author:KhanMohsinM, pubmed-author:KhanShaheen NSN, pubmed-author:MohsinSadiaS, pubmed-author:NasirIdrees AIA, pubmed-author:QaziZaheeruddin AZA, pubmed-author:RiazuddinS AmerSA, pubmed-author:RiazuddinSheikhS, pubmed-author:YasmeenAfshanA, pubmed-author:ZafarAhmad UAU
pubmed:issnType	Electronic
pubmed:volume	16
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	682-8
pubmed:dateRevised	2010-9-30
pubmed:meshHeading	pubmed-meshheading:20405025-Amino Acid Sequence, pubmed-meshheading:20405025-Base Sequence, pubmed-meshheading:20405025-Cataract, pubmed-meshheading:20405025-Consanguinity, pubmed-meshheading:20405025-DNA Mutational Analysis, pubmed-meshheading:20405025-Family, pubmed-meshheading:20405025-Female, pubmed-meshheading:20405025-Galactokinase, pubmed-meshheading:20405025-Genes, Recessive, pubmed-meshheading:20405025-Genetic Predisposition to Disease, pubmed-meshheading:20405025-Humans, pubmed-meshheading:20405025-Lod Score, pubmed-meshheading:20405025-Male, pubmed-meshheading:20405025-Molecular Sequence Data, pubmed-meshheading:20405025-Mutation, pubmed-meshheading:20405025-Pakistan, pubmed-meshheading:20405025-Pedigree, pubmed-meshheading:20405025-Sequence Alignment
pubmed:year	2010
pubmed:articleTitle	Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
pubmed:affiliation	National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't