Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

• Główni autorzy: Maxim Ivanov (Autor), Alina Matsvay (Autor), Olga Glazova (Autor), Stanislav Krasovskiy (Autor), Mariya Usacheva (Autor), Elena Amelina (Autor), Aleksandr Chernyak (Autor), Mikhail Ivanov (Autor), Sergey Musienko (Autor), Timofey Prodanov (Autor), Sergey Kovalenko (Autor), Ancha Baranova (Autor), Kamil Khafizov (Autor)
• Format: Książka
• Wydane: BMC, 2018-02-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Cystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causing mutations have been characterized in detail by CFTR2 database, which...