|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:dateCreated |
2005-11-10
|
|
pubmed:abstractText |
Only one mutation in the retinal fascin gene (FSCN2) has so far been associated with autosomal dominant retinitis pigmentosa (adRP) and macular dystrophy (adMD), in a Japanese population. Our study was designed to identify mutations in the FSCN2 gene among Spanish persons with adRP or adMD.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1090-0535
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
11
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
922-8
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:16280978-Amino Acid Sequence,
pubmed-meshheading:16280978-Base Sequence,
pubmed-meshheading:16280978-Carrier Proteins,
pubmed-meshheading:16280978-DNA Mutational Analysis,
pubmed-meshheading:16280978-DNA Primers,
pubmed-meshheading:16280978-Eye Proteins,
pubmed-meshheading:16280978-Female,
pubmed-meshheading:16280978-Genes, Dominant,
pubmed-meshheading:16280978-Humans,
pubmed-meshheading:16280978-Macular Degeneration,
pubmed-meshheading:16280978-Male,
pubmed-meshheading:16280978-Microfilament Proteins,
pubmed-meshheading:16280978-Molecular Sequence Data,
pubmed-meshheading:16280978-Mutation,
pubmed-meshheading:16280978-Pedigree,
pubmed-meshheading:16280978-Polymerase Chain Reaction,
pubmed-meshheading:16280978-Retinitis Pigmentosa,
pubmed-meshheading:16280978-Sequence Analysis, DNA,
pubmed-meshheading:16280978-Spain
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
|
|
pubmed:affiliation |
Laboratori de Biologia i Genetica Molecular, Hospital de Terrassa, Ctra. Torrebonica, Terrassa, Spain.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
