Linked Life Data

18515597

Source:http://linkedlifedata.com/resource/pubmed/id/18515597

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-6-2
pubmed:abstractText
Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinopathies. Up to now, 39 genes and loci have been implicated in nonsyndromic RP, yet the genetic bases of >50% of the cases, particularly of the recessive forms, remain unknown. A novel gene (CERKL) has been described as associated with RP26. It encodes a ceramide kinase that is assumed to be involved in sphingolipid-mediated apoptosis in the retina. This is a report of the phenotypes and genotypes of persons carrying disease-causing mutations in CERKL.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0146-0404
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2709-13
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
pubmed:affiliation
Department of Genetics, Fundacion Jimenez Diaz-CIBERER, Madrid, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't