18989382

Source:http://linkedlifedata.com/resource/pubmed/id/18989382

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0020302, umls-concept:C0026882, umls-concept:C0205225, umls-concept:C0205314, umls-concept:C0240620, umls-concept:C0298987, umls-concept:C0425375, umls-concept:C0679622
pubmed:dateCreated	2008-11-7
pubmed:abstractText	To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-10655546, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-11527932, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-11558822, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-11980847, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-12036985, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-12807732, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-13647611, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-1428571, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-14375435, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-14635112, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-14729846, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-15037581, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-15108121, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-15475877, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16319821, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16384942, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16688110, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16735994, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16862072, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-16963504, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-17591938, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-17893647, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-17914928, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-18055790, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-2676634, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-2813076, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-484670, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-6585139, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-7219964, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-7342408, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-8056435, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-8791791, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-8842741, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-9097971, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-9300658, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-9463332, http://linkedlifedata.com/resource/pubmed/commentcorrection/18989382-9497261
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Aryl Hydrocarbon Hydroxylases, http://linkedlifedata.com/resource/pubmed/chemical/CYP1B1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Cytochrome P-450 Enzyme System
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:FirasatSabikaS, pubmed-author:KhanShaheen NSN, pubmed-author:RiazuddinS AmerSA, pubmed-author:RiazuddinSheikhS
pubmed:issnType	Electronic
pubmed:volume	14
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	2002-9
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:18989382-Amino Acid Sequence, pubmed-meshheading:18989382-Aryl Hydrocarbon Hydroxylases, pubmed-meshheading:18989382-Asian Continental Ancestry Group, pubmed-meshheading:18989382-Base Sequence, pubmed-meshheading:18989382-Chromosomes, Human, Pair 2, pubmed-meshheading:18989382-Consanguinity, pubmed-meshheading:18989382-Cytochrome P-450 Enzyme System, pubmed-meshheading:18989382-DNA Mutational Analysis, pubmed-meshheading:18989382-Family, pubmed-meshheading:18989382-Female, pubmed-meshheading:18989382-Glaucoma, pubmed-meshheading:18989382-Humans, pubmed-meshheading:18989382-Lod Score, pubmed-meshheading:18989382-Male, pubmed-meshheading:18989382-Molecular Sequence Data, pubmed-meshheading:18989382-Mutation, pubmed-meshheading:18989382-Pakistan, pubmed-meshheading:18989382-Pedigree, pubmed-meshheading:18989382-Sequence Alignment
pubmed:year	2008
pubmed:articleTitle	Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
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