16179907

Source:http://linkedlifedata.com/resource/pubmed/id/16179907

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0026882, umls-concept:C0152035, umls-concept:C0205329, umls-concept:C1314792, umls-concept:C1413730, umls-concept:C1832526
pubmed:dateCreated	2005-9-23
pubmed:abstractText	To report and identify the genetic defect that causes progressive polymorphic congenital cataracts affecting a large five generation Chinese family.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/beta-Crystallin B Chain, http://linkedlifedata.com/resource/pubmed/chemical/beta-crystallin B2
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:RaoHuiyingH, pubmed-author:ShentuXingchaoX, pubmed-author:ShiS MSM, pubmed-author:TangXiajingX, pubmed-author:WangKaijunK, pubmed-author:YaoKeK
pubmed:issnType	Electronic
pubmed:volume	11
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	758-63
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:16179907-Adult, pubmed-meshheading:16179907-Asian Continental Ancestry Group, pubmed-meshheading:16179907-Cataract, pubmed-meshheading:16179907-DNA Mutational Analysis, pubmed-meshheading:16179907-Disease Progression, pubmed-meshheading:16179907-Exons, pubmed-meshheading:16179907-Female, pubmed-meshheading:16179907-Genes, Dominant, pubmed-meshheading:16179907-Genetic Linkage, pubmed-meshheading:16179907-Genotype, pubmed-meshheading:16179907-Humans, pubmed-meshheading:16179907-Lod Score, pubmed-meshheading:16179907-Male, pubmed-meshheading:16179907-Mutation, pubmed-meshheading:16179907-Pedigree, pubmed-meshheading:16179907-Phenotype, pubmed-meshheading:16179907-Polymerase Chain Reaction, pubmed-meshheading:16179907-Polymorphism, Restriction Fragment Length, pubmed-meshheading:16179907-Sequence Analysis, DNA, pubmed-meshheading:16179907-beta-Crystallin B Chain
pubmed:year	2005
pubmed:articleTitle	Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
pubmed:affiliation	Eye Center, Affiliated Second Hospital, College of Medicine, Zhejiang University, Hangzhou, China. xlren@zju.edu.cn
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't