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The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis

There has been considerable progress in the implementation of newborn screening (NBS) programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of strategies. Thanks to advances in genomic sequencing technologies, CFTR-extended genetic analysis (EGA) by sequencing its c...

詳細記述

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書誌詳細
出版年:Int J Neonatal Screen
主要な著者: Bergougnoux, Anne, 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/PMC7422980/
https://ncbi.nlm.nih.gov/pubmed/33073020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6010023
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