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

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

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...

Full description

Bibliographic Details
Main Authors: Maxim Ivanov, Alina Matsvay, Olga Glazova, Stanislav Krasovskiy, Mariya Usacheva, Elena Amelina, Aleksandr Chernyak, Mikhail Ivanov, Sergey Musienko, Timofey Prodanov, Sergey Kovalenko, Ancha Baranova, Kamil Khafizov
Format: Article
Language:English
Published: BMC 2018-02-01
Series:BMC Medical Genomics
Subjects:
NGS next generation sequencing
CFTR cystic fibrosis
Online Access:http://link.springer.com/article/10.1186/s12920-018-0328-z

Internet

http://link.springer.com/article/10.1186/s12920-018-0328-z

Similar Items