Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-7-18
pubmed:abstractText
To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD).
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-10425035, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-10554552, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-10612512, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-10660331, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-11146721, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-11923233, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-11927442, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-12700042, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-12770961, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-14502125, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-14766070, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-15111592, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-15559315, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-15840366, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-15885785, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-16453189, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-16683255, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-16888689, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-17013691, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-17768377, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-18259096, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-2668837, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-3370670, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-5303616, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-9054935, http://linkedlifedata.com/resource/pubmed/commentcorrection/18636123-9780098
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1298-302
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:18636123-Adult, pubmed-meshheading:18636123-Amino Acid Sequence, pubmed-meshheading:18636123-Amino Acid Substitution, pubmed-meshheading:18636123-Aspartic Acid, pubmed-meshheading:18636123-Base Sequence, pubmed-meshheading:18636123-Cornea, pubmed-meshheading:18636123-Corneal Dystrophies, Hereditary, pubmed-meshheading:18636123-DNA Mutational Analysis, pubmed-meshheading:18636123-Exons, pubmed-meshheading:18636123-Extracellular Matrix Proteins, pubmed-meshheading:18636123-Female, pubmed-meshheading:18636123-Glycine, pubmed-meshheading:18636123-Humans, pubmed-meshheading:18636123-Male, pubmed-meshheading:18636123-Middle Aged, pubmed-meshheading:18636123-Molecular Sequence Data, pubmed-meshheading:18636123-Mutation, pubmed-meshheading:18636123-Pedigree, pubmed-meshheading:18636123-Phenotype, pubmed-meshheading:18636123-Transforming Growth Factor beta
pubmed:year
2008
pubmed:articleTitle
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
pubmed:affiliation
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't