p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children

Clin Genet. 2017 Jul;92(1):115-116. doi: 10.1111/cge.12903. Epub 2017 Jan 30.

D I R Ribas^{1

2}, C H Escaliante², C G Bortoli¹, C R F de Oliveira^{1

2}, L R Mikami², C A Riedi³, S Raskin⁴, N A Rosário Filho^{1

3}, L Pereira-Ferrari^{1

2}

¹ Postgraduate Program in Internal Medicine and Health Sciences, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil.
² Centro Universitário Autônomo do Brasil - Escola de Saúde, UniBrasil, Curitiba, Brazil.
³ Department of Pediatrics, Universidade Federal do Paraná, Hospital de Clínicas, Curitiba, Brazil.
⁴ Graduate Program in Health Sciences, School of Medicine School of Life Sciences, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.

No abstract available

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