prikaz prve stranice dokumenta Monogenetske bolesti
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undergraduate thesis
Monogenetske bolesti
2018. urn:nbn:hr:139:072995
Kanjo, Matea
University of Applied Health Sciences

Cite this document

Kanjo, M. (2018). Monogenetske bolesti (Undergraduate thesis). Zagreb: University of Applied Health Sciences. Retrieved from https://urn.nsk.hr/urn:nbn:hr:139:072995

Kanjo, Matea. "Monogenetske bolesti." Undergraduate thesis, University of Applied Health Sciences, 2018. https://urn.nsk.hr/urn:nbn:hr:139:072995

Kanjo, Matea. "Monogenetske bolesti." Undergraduate thesis, University of Applied Health Sciences, 2018. https://urn.nsk.hr/urn:nbn:hr:139:072995

Kanjo, M. (2018). 'Monogenetske bolesti', Undergraduate thesis, University of Applied Health Sciences, accessed 19 April 2024, https://urn.nsk.hr/urn:nbn:hr:139:072995

Kanjo M. Monogenetske bolesti [Undergraduate thesis]. Zagreb: University of Applied Health Sciences; 2018 [cited 2024 April 19] Available at: https://urn.nsk.hr/urn:nbn:hr:139:072995

M. Kanjo, "Monogenetske bolesti", Undergraduate thesis, University of Applied Health Sciences, Zagreb, 2018. Available at: https://urn.nsk.hr/urn:nbn:hr:139:072995

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Metadata
TitleMonogenetske bolesti
AuthorMatea Kanjo
MentorPetra Korać (mentor)
Committee memberPetra Korać (predsjednik povjerenstva)
Committee memberAna Mojsović Ćuić (član povjerenstva)
Committee memberAna Kovšca Janjatović (član povjerenstva)
GranterUniversity of Applied Health Sciences
Zagreb
Defense date and country2018-09-24, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Biochemistry and Molecular Biology
Abstract
Monogenetske bolesti su bolesti do kojih dolazi kada se pojavi mutacija u samo jednom genu. U ovom je radu prikazan način na koji se pronalazi određeni gen čija mutacija je odgovorna za pojavu bolesti. Način na koji se pronalazi specifičan gen može uključivati pozicijsko i funkcionalno kloniranje, a završetkom projekta sekvenciranja ljudskoga genoma omogudeno je brže i jednostavnije dijagnosticiranje pojedinih monogenetskih bolesti. U radu su opisane kliničke slike, dijagnostika te genetska osnova Huntingtonove bolesti, cistične fibroze i Duchenneove mišidne distrofije. Svaka od ovih bolesti ima drugačiji način nasljeđivanja te predstavljaju najčešde bolesti povezane s dominantnim/recesivnim nasljeđivanjem tj. nasljeđivanjem povezanim sa spolnim kromosomima.
Keywords
Languagecroatian
URN:NBNurn:nbn:hr:139:072995
Study programmeTitle: Laboratory Medical Diagnostics
Study programme type: professional
Study level: undergraduate
Academic / professional title: stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) medicinsko laboratorijske dijagnostike (stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) medicinsko laboratorijske dijagnostike)
Type of resourceText
File originBorn digital
Access conditionsAccess restricted to students and staff of home institution
Terms of useLicence In copyright icon
Created on2018-11-19 10:46:40