Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-8-3
pubmed:abstractText
To screen a cohort of corneal dystrophy patients from North India for mutations in the transforming growth factor beta induced (TGFBI) gene, to correlate genotypes to phenotypes, to describe structural implications of various mutations on protein function, and to discuss the implications for diagnosis.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-10425035, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-10906123, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-12270930, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-12704192, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-12719415, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-1388724, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-14502125, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-16839198, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-17517781, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-18636123, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-19221447, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-19236704, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-19303004, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-19948560, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-19956413, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-20161820, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-3370670, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-4163628, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-5311535, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-9054935, http://linkedlifedata.com/resource/pubmed/commentcorrection/20680100-9061001
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1429-38
pubmed:meshHeading
pubmed-meshheading:20680100-Adult, pubmed-meshheading:20680100-Base Sequence, pubmed-meshheading:20680100-Child, pubmed-meshheading:20680100-Corneal Dystrophies, Hereditary, pubmed-meshheading:20680100-DNA Mutational Analysis, pubmed-meshheading:20680100-Extracellular Matrix Proteins, pubmed-meshheading:20680100-Family, pubmed-meshheading:20680100-Female, pubmed-meshheading:20680100-Genetic Association Studies, pubmed-meshheading:20680100-Genetic Testing, pubmed-meshheading:20680100-Humans, pubmed-meshheading:20680100-India, pubmed-meshheading:20680100-Male, pubmed-meshheading:20680100-Models, Molecular, pubmed-meshheading:20680100-Molecular Sequence Data, pubmed-meshheading:20680100-Mutation, pubmed-meshheading:20680100-Pedigree, pubmed-meshheading:20680100-Structural Homology, Protein, pubmed-meshheading:20680100-Transforming Growth Factor beta, pubmed-meshheading:20680100-Young Adult
pubmed:year
2010
pubmed:articleTitle
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
pubmed:affiliation
Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't