High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene
Copyright policy )High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene
The majority of the glaucoma cases endemic to Veli Brgud village are due to a known point mutation in MYOC gene, where tyrosine is replaced by methionine in the myocilin protein. It is estimated from the studies conducted to date that up to 20% of patients with early-onset OAG and 3%-5% of patients with adult-onset OAG have defects in this gene.
- University Hospital of Split Croatia
- Medical Research Council United Kingdom
- University of Split Croatia
- University of Zagreb Croatia
- MRC Human Genetics Unit, University of Edinburgh, Edinburgh, UK United Kingdom
Male, Croatia, glaucoma; Veli Brgud; Croatia; T377M mutation; MYOC gene, Iris, Pedigree, Cytoskeletal Proteins, Prevalence, Humans, Point Mutation, Female, Eye Proteins, Glaucoma, Open-Angle, Glycoproteins
Male, Croatia, glaucoma; Veli Brgud; Croatia; T377M mutation; MYOC gene, Iris, Pedigree, Cytoskeletal Proteins, Prevalence, Humans, Point Mutation, Female, Eye Proteins, Glaucoma, Open-Angle, Glycoproteins
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).7 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!