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A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

Cystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literature. However, the diagnosis of CF, which was thought to becom...

詳細記述

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書誌詳細
出版年:J Pediatr Genet
主要な著者: Arslan, Ahmet Burak, Zamani, Ayşe Gül, Pekcan, Sevgi, Yıldırım, Mahmut Selman
フォーマット: Artigo
言語:Inglês
出版事項: Georg Thieme Verlag KG 2020
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6976330/
https://ncbi.nlm.nih.gov/pubmed/31976142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694964
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