18432316

Source:http://linkedlifedata.com/resource/pubmed/id/18432316

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0009691, umls-concept:C0205314, umls-concept:C0332281, umls-concept:C0443147, umls-concept:C0544885, umls-concept:C0679622, umls-concept:C1413729
pubmed:dateCreated	2008-4-24
pubmed:abstractText	To identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-10521291, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-10634616, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-11006214, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-11520107, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-11577372, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-12360425, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-14598164, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-14669215, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15016766, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15110667, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15111599, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15452067, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15889016, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-15914629, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-16110300, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-16141006, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-16179907, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-16960806, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-1707874, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17234267, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17296892, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17460281, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17531125, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17653036, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17653060, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-17893667, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-3052280, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-7151791, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-7464942, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-7833801, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-7835889, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-8999933, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9158139, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9426193, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9467006, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9498126, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9788845, http://linkedlifedata.com/resource/pubmed/commentcorrection/18432316-9927684
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/CRYBB1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/beta-Crystallin B Chain
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:CaoZongfuZ, pubmed-author:DerrL KLK, pubmed-author:HSUJ YJY, pubmed-author:HeXiangX, pubmed-author:LiXuexiX, pubmed-author:RodeM MMM, pubmed-author:YangJuhuaJ, pubmed-author:ZhuYihuaY
pubmed:issnType	Electronic
pubmed:volume	14
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	727-31
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:18432316-Amino Acid Sequence, pubmed-meshheading:18432316-Base Sequence, pubmed-meshheading:18432316-Cataract, pubmed-meshheading:18432316-Codon, Nonsense, pubmed-meshheading:18432316-DNA Mutational Analysis, pubmed-meshheading:18432316-Female, pubmed-meshheading:18432316-Genes, Dominant, pubmed-meshheading:18432316-Genetic Predisposition to Disease, pubmed-meshheading:18432316-Haplotypes, pubmed-meshheading:18432316-Humans, pubmed-meshheading:18432316-Lod Score, pubmed-meshheading:18432316-Male, pubmed-meshheading:18432316-Molecular Sequence Data, pubmed-meshheading:18432316-Pedigree, pubmed-meshheading:18432316-beta-Crystallin B Chain
pubmed:year	2008
pubmed:articleTitle	A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
pubmed:affiliation	Biomedical Engineering Center of Fujian Medical University, Fuzhou, Fujian, China.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't