Linked Life Data

18653602

Source:http://linkedlifedata.com/resource/pubmed/id/18653602

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2008-7-25
pubmed:abstractText
To describe the detailed phenotypes of a multi-generation family affected by autosomal dominant cone-rod dystrophy (adCRD) and characterised by marked intrafamilial heterogeneity, due to a novel frameshift mutation in the CRX gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1468-2079
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
92
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1086-91
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
pubmed:affiliation
Centre of Ophthalmology, University Eye Hospital, Schleichstr. 12-16, D-72076 Tübingen, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't