Naslov
High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene

Autori
Zgaga, Lina ; Hayward, Caroline ; Vatavuk, Zoran ; Benčić, Goran ; Zemunik, Tatijana ; Valković, Aldo ; Valković-Antić, Ivana ; Bučan, Kajo ; Rudan, Igor

Izvornik
British Journal of Ophthalmology (0007-1161) 92 (2008), 11; 1567-1568

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo, znanstveni

Ključne riječi
glaucoma; Veli Brgud; Croatia; T377M mutation; MYOC gene

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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