Linked Life Data

17568989

Source:http://linkedlifedata.com/resource/pubmed/id/17568989

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2007-6-26
pubmed:abstractText
Mutations in the PAX6 gene of Japanese aniridia patients were analyzed. Four types of mutations including one known (474delC) and three novel (786_787ins10, 678_688del11 and 572_575delAATCins14) were found in six patients from four families. A patient with the mutation 572_575delAATCins14 also manifested VATER association. This is the first case of aniridia accompanied by VATER association. All of mutations found in this study are frameshift type, resulting in premature termination of translation. The database for PAX6 gene mutation has been made using a graphical data display system MutationView ( http://mutview.dmb.med.keio.ac.jp/ ).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
571-4
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Three novel mutations of the PAX6 gene in Japanese aniridia patients.
pubmed:affiliation
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't