|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2006-10-24
|
|
pubmed:abstractText |
To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1120-6721
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
16
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
779-81
|
|
pubmed:meshHeading |
pubmed-meshheading:17061239-Carrier Proteins,
pubmed-meshheading:17061239-DNA,
pubmed-meshheading:17061239-Electroretinography,
pubmed-meshheading:17061239-Female,
pubmed-meshheading:17061239-Humans,
pubmed-meshheading:17061239-Italy,
pubmed-meshheading:17061239-Male,
pubmed-meshheading:17061239-Mutation,
pubmed-meshheading:17061239-Ophthalmoscopy,
pubmed-meshheading:17061239-Pedigree,
pubmed-meshheading:17061239-Phenotype,
pubmed-meshheading:17061239-Retinitis Pigmentosa
|
|
pubmed:articleTitle |
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.
|
|
pubmed:affiliation |
Department of Ophthalmology, Second University of Napoli, Napoli, Italy.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
