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

• Главные авторы: Maxim Ivanov (Автор), Alina Matsvay (Автор), Olga Glazova (Автор), Stanislav Krasovskiy (Автор), Mariya Usacheva (Автор), Elena Amelina (Автор), Aleksandr Chernyak (Автор), Mikhail Ivanov (Автор), Sergey Musienko (Автор), Timofey Prodanov (Автор), Sergey Kovalenko (Автор), Ancha Baranova (Автор), Kamil Khafizov (Автор)
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• Опубликовано: BMC, 2018-02-01T00:00:00Z.
• Предметы: article
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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...