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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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Bibliografische gegevens
Gepubliceerd in:BMC Pediatr
Hoofdauteurs: Jaworska, Joanna, Marach-Mocarska, Aleksandra, Sands, Dorota
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2020
Onderwerpen:
Online toegang: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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