Linked Life Data

12124981

Source:http://linkedlifedata.com/resource/pubmed/id/12124981

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-7-18
pubmed:abstractText
Leber's congenital amaurosis (LCA) encompasses the most precocious and severe forms of inherited retinal dystrophy, displaying very significant visual handicap at or soon after birth. Among the currently identified mutations, alterations in the gene coding for retinal pigment epithelium 65-kDa protein (RPE65) lead to LCA2. Existing animal models for LCA2 (RPE65(-/-) null mice and naturally occurring RPE65(-/-) Briard dogs) exhibit near normal retinal histology at birth, although no recordable photofunction can be detected. Structural degeneration in both cases occurs with delayed onset, cone death generally preceding that of rods.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1099-498X
pubmed:author
pubmed:copyrightInfo
Copyright 2002 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
390-6
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:articleTitle
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).
pubmed:affiliation
Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, INSERM Université Louis Pasteur EMI 9918, Clinique Médicale A, CHUR Strasbourg, BP. 426, 1 Place de l'Hôpital, 67091 Strasbourg Cedex, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't