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1.
BMC Med ; 16(1): 159, 2018 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-30143037

RESUMO

The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.

2.
Hum Biol ; 77(5): 705-14, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16596947

RESUMO

The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island population, we screened 228 CF chromosomes using denaturing high-pressure liquid chromatography and denaturing gradient gel electrophoresis following by direct sequencing. We identified 27 mutations, accounting for 93% of CF chromosomes. They included three novel mutations (M1T, 3121-3C-->G, and L1324P), which are described in this paper. The detection of such a high proportion of Réunion Island CFTR mutations is important for improving neonatal screening of CF on Réunion Island.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Genética Populacional , Triagem Neonatal , Polimorfismo Genético , Fibrose Cística/diagnóstico , Humanos , Recém-Nascido , Mutação , Reunião
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