Literature DB >> 29727070

Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low-income region in Northeastern Brazil.

Laís R Mota1, Lorena L de Castro2, Tatiane da Anunciação Ferreira3, Renata L L F de Lima4, Maria Betânia P Toralles5, Edna L Souza3,5.   

Abstract

Entities:  

Year:  2018        PMID： 29727070     DOI： 10.1002/ppul.24026

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


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  2 in total

1.  Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.

Authors:  Laís Ribeiro Mota; Valmir Machado de Melo Filho; Lorena Lemos de Castro; Daniel Fantozzi Garcia; Regina Terse-Ramos; Maria Betânia Pereira Toralles; Renata Lúcia Leite Ferreira de Lima; Edna Lúcia Souza
Journal:  Mol Biol Rep       Date:  2018-09-19       Impact factor: 2.316

2.  Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Authors:  Stéphanie Villa-Nova Pereira; José Dirceu Ribeiro; Antônio Fernando Ribeiro; Carmen Sílvia Bertuzzo; Fernando Augusto Lima Marson
Journal:  Sci Rep       Date:  2019-04-17       Impact factor: 4.379
  2 in total

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