prikaz prve stranice dokumenta Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia
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Scientific paper - Original scientific paper
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. & Juretić, D. (2008). Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia. Croatica Chemica Acta, 81. (1), 125-130. Retrieved from 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, no. 1, 2008, pp. 125-130. https://urn.nsk.hr/urn:nbn:hr:163:340201

Barišić, Karmela, Lada Rumora, Marija Grdić and Dubravka Juretić. "Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia." Croatica Chemica Acta 81, no. 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), pp. 125-130. Available at: https://urn.nsk.hr/urn:nbn:hr:163:340201 (Accessed 22 November 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]. 2008 April 15 [cited 2024 November 22];81(1):125-130. Available at: https://urn.nsk.hr/urn:nbn:hr:163:340201

K. Barišić, L. Rumora, M. Grdić and D. Juretić, "Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia", Croatica Chemica Acta, vol. 81, no. 1, pp. 125-130, April 2008. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:163:340201. [Accessed: 22 November 2024]

Metadata
Title (english)Frequency of galactose-1-phosphate uridyl transferase gene mutations in healthy population of Croatia
AuthorKarmela Barišić
AuthorLada Rumora
AuthorMarija Grdić
AuthorDubravka Juretić
Author's institutionUniversity of Zagreb
Faculty of Pharmacy and Biochemistry
(Department of medical biochemistry and haematology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Pharmacy
Medical Biochemistry
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titleCroatica Chemica Acta
Numberingvol. 81, no. 1, pp. 125-130
p-ISSN0011-1643
e-ISSN1334-417X
URN:NBNurn:nbn:hr:163:340201
Publication2008-04-15
Document URLhttps://hrcak.srce.hr/23432
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2018-05-11 10:28:33