Linked Life Data

9780098

Source:http://linkedlifedata.com/resource/pubmed/id/9780098

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-10-23
pubmed:abstractText
Two patients were diagnosed with Reis-Bücklers corneal dystrophy (RBCD), although the pattern and severity of corneal opacification differed. To see whether there was a genetic basis for these phenotypic variations, we analyzed beta ig-h3, the gene that codes for kerato-epithelin and that contains a mutation (Arg555Gln) that causes RBCD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0002-9394
pubmed:author
pubmed:issnType
Print
pubmed:volume
126
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
535-42
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:9780098-Adult, pubmed-meshheading:9780098-Cornea, pubmed-meshheading:9780098-Corneal Dystrophies, Hereditary, pubmed-meshheading:9780098-Corneal Opacity, pubmed-meshheading:9780098-DNA Mutational Analysis, pubmed-meshheading:9780098-DNA Primers, pubmed-meshheading:9780098-Exons, pubmed-meshheading:9780098-Extracellular Matrix Proteins, pubmed-meshheading:9780098-Female, pubmed-meshheading:9780098-Humans, pubmed-meshheading:9780098-Male, pubmed-meshheading:9780098-Neoplasm Proteins, pubmed-meshheading:9780098-Pedigree, pubmed-meshheading:9780098-Point Mutation, pubmed-meshheading:9780098-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:9780098-Sequence Analysis, DNA, pubmed-meshheading:9780098-Transforming Growth Factor beta, pubmed-meshheading:9780098-Visual Acuity
pubmed:year
1998
pubmed:articleTitle
Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
pubmed:affiliation
Department of Ophthalmology, Osaka University Medical School, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't