Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CF...

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Detalhes bibliográficos
Publicado no:Croat Med J
Main Authors: Turkalj, Mirjana, Matišić, Vid, Šimić, Arijana, Juginović, Alen, Erceg, Damir, Drinković, Dorian Tješić, Höppner, Wolfgang, Primorac, Dragan
Formato: Artigo
Idioma:Inglês
Publicado em: Croatian Medical Schools 2019
Assuntos:
11th ISABS CONFERENCE
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6563179/
https://ncbi.nlm.nih.gov/pubmed/31187952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3325//cmj.2019.60.246
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