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

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 complica...

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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Ivanov, Maxim, Matsvay, Alina, Glazova, Olga, Krasovskiy, Stanislav, Usacheva, Mariya, Amelina, Elena, Chernyak, Aleksandr, Ivanov, Mikhail, Musienko, Sergey, Prodanov, Timofey, Kovalenko, Sergey, Baranova, Ancha, Khafizov, Kamil
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836842/
https://ncbi.nlm.nih.gov/pubmed/29504914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0328-z
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