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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges

Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of molecular diagnosis of CF and CFTR-related diso...

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書誌詳細
出版年:Genes (Basel)
主要な著者: Bienvenu, Thierry, Lopez, Maureen, Girodon, Emmanuelle
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7349214/
https://ncbi.nlm.nih.gov/pubmed/32512765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11060619
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