Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-6-25
pubmed:abstractText
Primary open-angle glaucoma encompasses a complex of potentially blinding ocular diseases characterized by a normal-appearing angle of the anterior chamber, a characteristic degeneration of the optic nerve with resultant typical visual field defects, and usually, an elevated intraocular pressure. It can be subdivided into 2 groups according to the age at onset: the more prevalent chronic open-angle glaucoma diagnosed after 40 years of age, and the less common juvenile form, which occurs between 3 years of age and early adulthood. A locus for primary open-angle glaucoma (GLC1A) has been mapped to a 3-centimorgan region of the long arm of chromosome 1 (1q23-25). Recently, the myocilin (MYOC) gene, located in this chromosomal interval, has been found mutated in several patients affected by primary open-angle glaucoma.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
116
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
793-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:9639450-Adolescent, pubmed-meshheading:9639450-Adult, pubmed-meshheading:9639450-Child, pubmed-meshheading:9639450-Cytoskeletal Proteins, pubmed-meshheading:9639450-DNA Mutational Analysis, pubmed-meshheading:9639450-DNA Primers, pubmed-meshheading:9639450-Exons, pubmed-meshheading:9639450-Eye Proteins, pubmed-meshheading:9639450-Female, pubmed-meshheading:9639450-Genetic Linkage, pubmed-meshheading:9639450-Glaucoma, Open-Angle, pubmed-meshheading:9639450-Glycoproteins, pubmed-meshheading:9639450-Humans, pubmed-meshheading:9639450-Italy, pubmed-meshheading:9639450-Male, pubmed-meshheading:9639450-Middle Aged, pubmed-meshheading:9639450-Mutation, pubmed-meshheading:9639450-Pedigree, pubmed-meshheading:9639450-Sequence Analysis, DNA, pubmed-meshheading:9639450-Visual Field Tests
pubmed:year
1998
pubmed:articleTitle
A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.
pubmed:affiliation
Istituto di Genetica Molecolare Consiglio Nazionale delle Ricerche, Alghero, La Palma (Sassari), Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't