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izvor podataka: crosbi

A simple and rapid analysis of triplet repeat diseases by Expand Long PCR (CROSBI ID 93435)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Hećimović, Silva ; Vlašić, Jelena ; Barišić, Ingeborg ; Marković, Dubravko ; Čulić, Vida ; Pavelić, Krešimir A simple and rapid analysis of triplet repeat diseases by Expand Long PCR // Clinical chemistry and laboratory medicine, 39 (2001), 12; 1259-1262

Podaci o odgovornosti

Hećimović, Silva ; Vlašić, Jelena ; Barišić, Ingeborg ; Marković, Dubravko ; Čulić, Vida ; Pavelić, Krešimir

engleski

A simple and rapid analysis of triplet repeat diseases by Expand Long PCR

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

triplet repeat diseases; molecular diagnosis; DNA analysis; PCR

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Podaci o izdanju

39 (12)

2001.

1259-1262

objavljeno

1434-6621

Povezanost rada

Javno zdravstvo i zdravstvena zaštita

Indeksiranost