prikaz prve stranice dokumenta Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene
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Scientific paper - Original scientific paper
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene
Collegium Antropologicum, 33 (2009), 4; 1255-1258. urn:nbn:hr:105:318974
Petković Ramadža, Danijela; Stipoljev, Feodora; Sarnavka, Vladimir; Begović, Davor; Potočki, Kristina; Fumić, Ksenija; Mornet, Etienne; Barić, Ivo

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Petković Ramadža, D., Stipoljev, F., Sarnavka, V., Begović, D., Potočki, K., Fumić, K. ... Barić, I. (2009). Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene. Collegium Antropologicum, 33. (4), 1255-1258. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:318974

Petković Ramadža, Danijela, et al. "Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene." Collegium Antropologicum, vol. 33, no. 4, 2009, pp. 1255-1258. https://urn.nsk.hr/urn:nbn:hr:105:318974

Petković Ramadža, Danijela, Feodora Stipoljev, Vladimir Sarnavka, Davor Begović, Kristina Potočki, Ksenija Fumić, Etienne Mornet and Ivo Barić. "Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene." Collegium Antropologicum 33, no. 4 (2009): 1255-1258. https://urn.nsk.hr/urn:nbn:hr:105:318974

Petković Ramadža, D., et al. (2009) 'Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene', Collegium Antropologicum, 33(4), pp. 1255-1258. Available at: https://urn.nsk.hr/urn:nbn:hr:105:318974 (Accessed 18 November 2024)

Petković Ramadža D, Stipoljev F, Sarnavka V, Begović D, Potočki K, Fumić K, and sur.. Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene. Collegium Antropologicum [Internet]. 2009 December [cited 2024 November 18];33(4):1255-1258. Available at: https://urn.nsk.hr/urn:nbn:hr:105:318974

D. Petković Ramadža, et al., "Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene", Collegium Antropologicum, vol. 33, no. 4, pp. 1255-1258, December 2009. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:318974. [Accessed: 18 November 2024]

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Metadata
Title (english)Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene
Title (croatian)Hipofosfatazija: fenotipska varijabilnost i moguće hrvatsko podrijetlo c.1402g>a mutacije TNSLAP gena
AuthorDanijela Petković Ramadža
AuthorFeodora Stipoljev
AuthorVladimir Sarnavka
AuthorDavor Begović
AuthorKristina Potočki
AuthorKsenija Fumić
AuthorEtienne Mornet
AuthorIvo Barić
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP). The disorder is caused by various mutations in the TNSALP gene localized on short arm of chromosome 1. Infantile hypophosphatasia is a severe form of the disease inherited as an autosomal recessive trait which presents before age of six months and often has fatal outcome. We report a patient with typical clinical course for infantile hypophosphatasia who was homozygous for the c.1402G>A mutation. The same mutation has been previously associated with a more severe perinatal form also in a Croatian family what indicates a possible common ancestral origin and phenotypic variability potential of c.1402G>A mutation of TNSALP gene.
Abstract (croatian)
Hipofosfatazija je nasljedna metabolička bolest kostiju koja nastaje zbog nedostatne funkcije tkivno nespecifične alkaline fosfataze (TNSALP), a očituje se smanjenom mineralizacijom kostiju i zubi. Bolest nastaje zbog mutacija TNSALP gena koji se nalazi na kratkom kraku 1. kromosoma. Infantilni oblik hipofosfatazije se nasljeđuje autosomno recesivno, a klinički se bolest očituje unutar prvih šest mjeseci života i nerijetko ima fatalan ishod. Prikazujemo žensko dojenče oboljelo od infantilne hipofosfatazije s kliničkom slikom karakterističnom za ovaj oblik bolesti, koje je bilo homozigot za c.1402G>A mutaciju TNSALP gena. Ista mutacija je ranije opisana u fetusa koji je također bio hrvatskog porijekla, ali je imao teži, perinatalni oblik bolesti. U članku se raspravlja o mogućem zajedničkom porijeklu i fenotipskoj varijabilnosti mutacije c.1402G>A gena TNSALP.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 33, no. 4, pp. 1255-1258
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:318974
Publication2009-12
Document URLhttps://hrcak.srce.hr/51511
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 11:39:08