Matches in SemOpenAlex for { <https://semopenalex.org/work/W2753209618> ?p ?o ?g. }
Showing items 1 to 39 of
39
with 100 items per page.
- W2753209618 startingPage "59" @default.
- W2753209618 abstract "Ahondroplazija i hipohondroplazija ceste su autosomno dominantne kostane displazije, koje vecinom nastaju kao posljedica de novo alelnih mutacija u genu za receptor cimbenika rasta fibroblasta (FGFR3). Dijagnoza ahondroplazije se zasniva na karakteristicnim klinickim i radiografskim nalazima, dok su dijagnosticki kriteriji za hipohondroplaziju manje pouzdani zbog raznolikosti klinicke prezentacije i nedostatka tipicnih rengenskih obilježja. Prikazujemo rezultate analize mutacija G380R (G1138A i G1138C) i N540K (C1620G) u genu FGFR3 primjenom metode PCR/RFLP bolesnika s ahondroplazijom i hipohondroplazijom, koji se prate u Klinici za djecje bolesti Zagreb. Molekularna analiza gena FGFR3 pokazala se pouzdanom, jednostavnom i korisnom metodom. Kod osoba koje su premlade za postavljanje sigurne dijagnoze i kod osoba s atipicnim/blagim nalazima, molekularno gensko testiranje može znacajno pomoci u pravodobnom postavljanju dijagnoze i genetickom savjetovanju zahvacenih obitelji." @default.
- W2753209618 created "2017-09-15" @default.
- W2753209618 creator A5038460441 @default.
- W2753209618 creator A5086996566 @default.
- W2753209618 creator A5088402711 @default.
- W2753209618 date "2006-01-01" @default.
- W2753209618 modified "2023-09-24" @default.
- W2753209618 title "Mutations in FGFR3 gene in Croatian patients with achondroplasia and hypochondroplasia" @default.
- W2753209618 hasPublicationYear "2006" @default.
- W2753209618 type Work @default.
- W2753209618 sameAs 2753209618 @default.
- W2753209618 citedByCount "2" @default.
- W2753209618 crossrefType "journal-article" @default.
- W2753209618 hasAuthorship W2753209618A5038460441 @default.
- W2753209618 hasAuthorship W2753209618A5086996566 @default.
- W2753209618 hasAuthorship W2753209618A5088402711 @default.
- W2753209618 hasConcept C138885662 @default.
- W2753209618 hasConcept C2780472190 @default.
- W2753209618 hasConcept C41895202 @default.
- W2753209618 hasConcept C54355233 @default.
- W2753209618 hasConcept C71924100 @default.
- W2753209618 hasConcept C83559648 @default.
- W2753209618 hasConcept C86803240 @default.
- W2753209618 hasConceptScore W2753209618C138885662 @default.
- W2753209618 hasConceptScore W2753209618C2780472190 @default.
- W2753209618 hasConceptScore W2753209618C41895202 @default.
- W2753209618 hasConceptScore W2753209618C54355233 @default.
- W2753209618 hasConceptScore W2753209618C71924100 @default.
- W2753209618 hasConceptScore W2753209618C83559648 @default.
- W2753209618 hasConceptScore W2753209618C86803240 @default.
- W2753209618 hasLocation W27532096181 @default.
- W2753209618 hasOpenAccess W2753209618 @default.
- W2753209618 hasPrimaryLocation W27532096181 @default.
- W2753209618 hasVolume "50" @default.
- W2753209618 isParatext "false" @default.
- W2753209618 isRetracted "false" @default.
- W2753209618 magId "2753209618" @default.
- W2753209618 workType "article" @default.