prikaz prve stranice dokumenta Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia
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Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia
Croatica Chemica Acta, 81 (2008), 1; 125-130. urn:nbn:hr:163:340201
Barišić, Karmela; Rumora, Lada; Grdić, Marija; Juretić, Dubravka

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Barišić, K., Rumora, L., Grdić, M. i Juretić, D. (2008). Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia. Croatica Chemica Acta, 81. (1), 125-130. Preuzeto s https://urn.nsk.hr/urn:nbn:hr:163:340201

Barišić, Karmela, et al. "Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia." Croatica Chemica Acta, vol. 81, br. 1, 2008, str. 125-130. https://urn.nsk.hr/urn:nbn:hr:163:340201

Barišić, Karmela, Lada Rumora, Marija Grdić i Dubravka Juretić. "Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia." Croatica Chemica Acta 81, br. 1 (2008): 125-130. https://urn.nsk.hr/urn:nbn:hr:163:340201

Barišić, K., et al. (2008) 'Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia', Croatica Chemica Acta, 81(1), str. 125-130. Preuzeto s: https://urn.nsk.hr/urn:nbn:hr:163:340201 (Datum pristupa: 05.10.2024.)

Barišić K, Rumora L, Grdić M, Juretić D. Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia. Croatica Chemica Acta [Internet]. 15.04.2008. [pristupljeno 05.10.2024.];81(1):125-130. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:163:340201

K. Barišić, L. Rumora, M. Grdić i D. Juretić, "Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia", Croatica Chemica Acta, vol. 81, br. 1, str. 125-130, Travanj 2008. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:163:340201. [Citirano: 05.10.2024.]

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Naslov (engleski)Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia
AutorKarmela Barišić
AutorLada Rumora
AutorMarija Grdić
AutorDubravka Juretić
Autorova ustanovaSveučilište u Zagrebu
Farmaceutsko-biokemijski fakultet
(Zavod za medicinsku biokemiju i hematologiju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Farmacija
Medicinska biokemija
Sažetak (engleski)
Galactosemia is a human disease caused by deficient activity of each one of the three enzymes involved in galactose metabolism, galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and UDP-galactose-4-epimerase (GALE). Absence or deficiency of GALT activity results in classical galactosemia. This disorder exhibits allelic heterogeneity in different populations and ethnic groups. The aim of this study was to search for galactosemia mutations Q188R, N314D, and K285N in healthy population of Croatia. DNA samples from 221 subjects were analyzed by the polymerase chain reaction, followed by digestion with restriction endonucleases (PCR-RFLP procedure). Allele frequencies for Q188R, N314D, and K285N were found to be 0.2 %, 7.5 % and 0 %, respectively, and correlate well with those published for most other healthy Caucasian populations.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran - međunarodna recenzija
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatica Chemica Acta
Brojčani podacivol. 81, br. 1, str. 125-130
p-ISSN0011-1643
e-ISSN1334-417X
URN:NBNurn:nbn:hr:163:340201
Datum objave publikacije2008-04-15
URL dokumentahttps://hrcak.srce.hr/23432
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2018-05-11 10:28:33