Cystic Fibrosis Polymorphic Variants in a Russian Population

PURPOSE: Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom panel for the diagnosis of heterozygous carriage...

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Dettagli Bibliografici
Pubblicato in:Pharmgenomics Pers Med
Autori principali: Kiseleva, Anna, Klimushina, Marina, Sotnikova, Evgeniia, Skirko, Olga, Divashuk, Mikhail, Kurilova, Olga, Ershova, Alexandra, Khlebus, Eleonora, Zharikova, Anastasia, Efimova, Irina, Pokrovskaya, Maria, Slominsky, Petr A, Shalnova, Svetlana, Meshkov, Alexey, Drapkina, Oxana
Natura: Artigo
Lingua:Inglês
Pubblicazione: Dove 2020
Soggetti:
Original Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7894124/
https://ncbi.nlm.nih.gov/pubmed/33623413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/PGPM.S278806
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