|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2001-1-22
|
|
pubmed:abstractText |
To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1).
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0003-9950
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
119
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
96-105
|
|
pubmed:dateRevised |
2008-11-21
|
|
pubmed:meshHeading |
pubmed-meshheading:11146732-Adolescent,
pubmed-meshheading:11146732-Adult,
pubmed-meshheading:11146732-Aged,
pubmed-meshheading:11146732-Aged, 80 and over,
pubmed-meshheading:11146732-Calcium-Binding Proteins,
pubmed-meshheading:11146732-Color Vision Defects,
pubmed-meshheading:11146732-DNA,
pubmed-meshheading:11146732-Electrooculography,
pubmed-meshheading:11146732-Electroretinography,
pubmed-meshheading:11146732-Female,
pubmed-meshheading:11146732-Fluorescein Angiography,
pubmed-meshheading:11146732-Genes, Dominant,
pubmed-meshheading:11146732-Guanylate Cyclase,
pubmed-meshheading:11146732-Guanylate Cyclase-Activating Proteins,
pubmed-meshheading:11146732-Humans,
pubmed-meshheading:11146732-Male,
pubmed-meshheading:11146732-Middle Aged,
pubmed-meshheading:11146732-Pedigree,
pubmed-meshheading:11146732-Phenotype,
pubmed-meshheading:11146732-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:11146732-Point Mutation,
pubmed-meshheading:11146732-Retinal Degeneration,
pubmed-meshheading:11146732-Visual Acuity,
pubmed-meshheading:11146732-Visual Fields
|
|
pubmed:year |
2001
|
|
pubmed:articleTitle |
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
|
|
pubmed:affiliation |
Moorsfield Eye Hospital, London, England. susan.downes@ophthalmology.oxford.ac.uk
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
