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Pregled bibliografske jedinice broj: 14399

Časopis

Autori: Terzić, Janoš; Krželj, Vjekoslav; Drmić, Irena; Anđelinović, Šimun; Primorac, Dragan; Meštrović, Julije; Balarin, Livio
Naslov: Genetic analysis of the glucosa-6-phosphate dehydrgenase deficiency in a Southern Croatia
Izvornik: Collegium Antropologicum (0350-6134) 22 (1998), 2; 485-489
Vrsta rada: članak
Ključne riječi: enzyme deficiency; genetics
Sažetak:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C-->T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C-->T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.
Projekt / tema: 108194, 108062
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Social Science Citation Index (SSCI) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Kliničke medicinske znanosti
Puni text rada: 14399.1998_Coll_Antropol_Terzic_Genetic_Analysis.pdf (tekst priložen 28. Ožu. 2007. u 14:12 sati)
URL cjelovitog teksta:
Google Scholar: Genetic analysis of the glucosa-6-phosphate dehydrgenase deficiency in a Southern Croatia



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