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Pregled bibliografske jedinice broj: 73775

Časopis

Autori: Hećimović, Silva; Vlašić, Jelena; Barišić, Ingeborg; Marković, Dubravko; Čulić, Vida; Pavelić, Krešimir
Naslov: A simple and rapid analysis of triplet repeat diseases by Expand Long PCR
Izvornik: Clinical Chemistry and Laboratory Medicine (1434-6621) 39 (2001), 12; 1259-1262
Vrsta rada: članak
Ključne riječi: triplet repeat diseases; molecular diagnosis; DNA analysis; PCR
Sažetak:
It is known that 15 monogenic, mostly neurological disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics are robust amplification of expanded alleles, simplicity, low cost and speed. We suggest the use of Expand Long PCR for routine molecular diagnosis of triplet repeat diseases, and present such analysis of the fragile X syndrome, myotonic dystrophy and Huntingtons disease
Projekt / tema: 00981104, 072777
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Javno zdravstvo i zdravstvena zaštita
URL cjelovitog teksta:
Google Scholar: A simple and rapid analysis of triplet repeat diseases by Expand Long PCR



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