Article
A new insight into CFTR allele frequency in Brazil through next generation sequencing.
Pediatric pulmonology - 1 Oct 2017
Nunes Luisa M, Ribeiro Roberto, Niewiadonski Vivian D T, Sabino Ester, Yamamoto Guilherme L, Bertola Débora R, Gaburo Nelson, da Silva Filho Luiz Vicente R F
Abstract excerpt
BACKGROUND: As of 2013, fewer than 20% of patients in the Brazilian CF Registry had two CFTR mutations identified. The aim of this study was to sequence the coding region of the CFTR in Brazilian CF patients and determine the frequency of mutations in this cohort. METHODS: Patients with CF and those with suspected atypical CF or CFTR-related disorders were invited to enroll. Total DNA was extracted from blood...
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