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Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

BACKGROUND: Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The intr...

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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Jaworska, Joanna, Marach-Mocarska, Aleksandra, Sands, Dorota
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7055720/
https://ncbi.nlm.nih.gov/pubmed/32103733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-1980-y
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