20597646

Source:http://linkedlifedata.com/resource/pubmed/id/20597646

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0064752, umls-concept:C0152035, umls-concept:C0158551, umls-concept:C0205314, umls-concept:C0332281, umls-concept:C0443147, umls-concept:C0679622, umls-concept:C1415075
pubmed:issue	7
pubmed:dateCreated	2010-7-5
pubmed:abstractText	To identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital nuclear cataract.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8104312
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/connexin 50
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1460-2202
pubmed:author	pubmed-author:ChengJieJ, pubmed-author:GaoXiaoboX, pubmed-author:HSUJ YJY, pubmed-author:LiFeifengF, pubmed-author:LiXiaoqiaoX, pubmed-author:LiuChunmeiC, pubmed-author:LuCailingC, pubmed-author:ZhangMengM, pubmed-author:ZhuSiquanS
pubmed:issnType	Electronic
pubmed:volume	35
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	597-604
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:20597646-Asian Continental Ancestry Group, pubmed-meshheading:20597646-Cataract, pubmed-meshheading:20597646-Chromatography, High Pressure Liquid, pubmed-meshheading:20597646-Connexins, pubmed-meshheading:20597646-DNA Mutational Analysis, pubmed-meshheading:20597646-Eye Proteins, pubmed-meshheading:20597646-Female, pubmed-meshheading:20597646-Genes, Dominant, pubmed-meshheading:20597646-Genetic Linkage, pubmed-meshheading:20597646-Genotype, pubmed-meshheading:20597646-Humans, pubmed-meshheading:20597646-Lens Nucleus, Crystalline, pubmed-meshheading:20597646-Lod Score, pubmed-meshheading:20597646-Male, pubmed-meshheading:20597646-Microsatellite Repeats, pubmed-meshheading:20597646-Mutation, Missense, pubmed-meshheading:20597646-Pedigree, pubmed-meshheading:20597646-Polymorphism, Restriction Fragment Length
pubmed:year	2010
pubmed:articleTitle	A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family.
pubmed:affiliation	Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing, China.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't