Linked Life Data

19011012

Source:http://linkedlifedata.com/resource/pubmed/id/19011012

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-2-26
pubmed:abstractText
Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the synthetic pathway of the visual chromophore 11-cis-retinal, therefore resulting in early and progressive retinal degeneration (RD). Mutations in this gene have been related to autosomal recessive Leber congenital amaurosis (LCA) and to a form of autosomal recessive childhood-onset severe retinal dystrophy (CSRD). This study was undertaken to attempt to correlate the genotype and phenotype in Spanish CSRD and LCA patients who harbor RDH12 mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1552-5783
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1065-8
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.
pubmed:affiliation
Departamento de Bioquímica, Genética e Inmunología, Universidad de Vigo, Vigo, Spain. dianaval@uvigo.es
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't