The Role of Extended <i>CFTR</i> Gene Sequencing in Newborn Screening for Cystic Fibrosis

• मुख्य लेखकों: Anne Bergougnoux (लेखक), Maureen Lopez (लेखक), Emmanuelle Girodon (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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, <i>CFTR</i>-extended genetic analysis (EGA)...