19145249

Source:http://linkedlifedata.com/resource/pubmed/id/19145249

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0241888, umls-concept:C0332281, umls-concept:C1275685, umls-concept:C1336623, umls-concept:C1842571
pubmed:dateCreated	2009-1-15
pubmed:abstractText	To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-10422854, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-10611102, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-10612512, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-10753964, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-10844061, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-11024425, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-11146721, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-11476681, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-11923233, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-12700042, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-1454323, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-16327777, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-3278259, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-8240112, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-9054935, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-9399907, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-9603385, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-9727418, http://linkedlifedata.com/resource/pubmed/commentcorrection/19145249-9924333
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Transforming Growth Factor beta, http://linkedlifedata.com/resource/pubmed/chemical/betaIG-H3 protein
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:BaiJingJ, pubmed-author:CaoWenpingW, pubmed-author:CuiXiaoboX, pubmed-author:FuSongbinS, pubmed-author:GeHongyanH, pubmed-author:LiuPingP, pubmed-author:ZhangLuL
pubmed:issnType	Electronic
pubmed:volume	15
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	70-5
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:19145249-Adolescent, pubmed-meshheading:19145249-Adult, pubmed-meshheading:19145249-Aged, pubmed-meshheading:19145249-Amino Acid Substitution, pubmed-meshheading:19145249-Asian Continental Ancestry Group, pubmed-meshheading:19145249-Base Sequence, pubmed-meshheading:19145249-Child, pubmed-meshheading:19145249-Child, Preschool, pubmed-meshheading:19145249-China, pubmed-meshheading:19145249-Cornea, pubmed-meshheading:19145249-Corneal Dystrophies, Hereditary, pubmed-meshheading:19145249-DNA Mutational Analysis, pubmed-meshheading:19145249-Exons, pubmed-meshheading:19145249-Extracellular Matrix Proteins, pubmed-meshheading:19145249-Family, pubmed-meshheading:19145249-Female, pubmed-meshheading:19145249-Genetic Predisposition to Disease, pubmed-meshheading:19145249-Homozygote, pubmed-meshheading:19145249-Humans, pubmed-meshheading:19145249-Male, pubmed-meshheading:19145249-Middle Aged, pubmed-meshheading:19145249-Molecular Sequence Data, pubmed-meshheading:19145249-Mutation, pubmed-meshheading:19145249-Pedigree, pubmed-meshheading:19145249-Penetrance, pubmed-meshheading:19145249-Phenotype, pubmed-meshheading:19145249-Transforming Growth Factor beta
pubmed:year	2009
pubmed:articleTitle	Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.
pubmed:affiliation	Eye hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China.
pubmed:publicationType	Journal Article, Case Reports