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MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA
Medicina, 42(40) (2004), 4; 310-312. urn:nbn:hr:184:818184
Medica, Igor; Balaban, Manuela; Prpić, Igor; Zaputović, Sanja; Ostojić, Saša; Kapović, Miljenko; Haller, Herman; Peterlin, Borut

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Medica, I., Balaban, M., Prpić, I., Zaputović, S., Ostojić, S., Kapović, M. ... Peterlin, B. (2004). MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA. Medicina, 42(40). (4), 310-312. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:818184

Medica, Igor, et al. "MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA." Medicina, vol. 42(40), no. 4, 2004, pp. 310-312. https://urn.nsk.hr/urn:nbn:hr:184:818184

Medica, Igor, Manuela Balaban, Igor Prpić, Sanja Zaputović, Saša Ostojić, Miljenko Kapović, Herman Haller and Borut Peterlin. "MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA." Medicina 42(40), no. 4 (2004): 310-312. https://urn.nsk.hr/urn:nbn:hr:184:818184

Medica, I., et al. (2004) 'MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA', Medicina, 42(40)(4), pp. 310-312. Available at: https://urn.nsk.hr/urn:nbn:hr:184:818184 (Accessed 28 December 2024)

Medica I, Balaban M, Prpić I, Zaputović S, Ostojić S, Kapović M, and sur.. MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA. Medicina [Internet]. 2004 [cited 2024 December 28];42(40)(4):310-312. Available at: https://urn.nsk.hr/urn:nbn:hr:184:818184

I. Medica, et al., "MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA", Medicina, vol. 42(40), no. 4, pp. 310-312, 2004. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:818184. [Accessed: 28 December 2024]

Metadata
Title (croatian)MUTACIJE U GENU GJB2/CONNEXIN 26 KAO NAJČEŠĆI UZROK OSLABLJENOG SLUHA
Title (english)MUTATIONS IN GENE GJB2/CONNEXIN 26 AS THE MOST FREQUENT CAUSE OF IMPAIRED HEARING
AuthorIgor Medica
AuthorManuela Balaban
AuthorIgor Prpić
AuthorSanja Zaputović
AuthorSaša Ostojić
AuthorMiljenko Kapović
AuthorHerman Haller
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract (croatian)
Zbog svoje učestalosti i potrebe za ranom dijagnozom, oslabljeni je sluh epidemiološki i javnozdravstveni problem. Mutacija del35G u GJB2 genu najčešći je uzrok genetski uzrokovane gluhoće, a vizualizira se PCR-metodom. Uvođenje analize mutacije u dijagnostički algoritam oslabljenog sluha omogućuje brzu, preciznu i etiološku dijagnozu, a i informativno genetičko savjetovanje. Ispitivanjem hrvatske populacije iz Istarske i Primorsko-goranske županije, mutacija je nađena u 36% osoba oslabljenog sluha, slično do sada ispitivanim populacijama ustanovljena je incidencija mutacije u populaciji novorođenčadi od 1/1091 (95CI: 1/372 – 1/3205).
Abstract (english)
Due to its frequency and the implications of early detection, hearing impairment has become an important epidemiological and public health care problem. Del35G/GJB2 mutation is the most common cause of genetic deafness, visualized by the PCR method. The mutation analysis has been successfully introduced in the diagnostics of deafness, and it enables fast, precise and etiologic diagnosis, as well as informative genetic counselling. The study of the Croatian population from the counties of Istria and Primorje-Gorski kotar revealed that the del35G mutation is involved in 36% of hearing impaired subjects; the incidence of the mutation in the population of newborns being 1/1091 (95CI: 1/372 – 1/3205).
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeProfessional paper - Professional paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina
Numberingvol. 42(40), no. 4, pp. 310-312
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:818184
Publication2004
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-06-09 15:05:15