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Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing

BACKGROUND: Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. METHODS: Among families who were referred to Narges Genetic and PND Laboratory in 2015-201...

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Detalles Bibliográficos
Autores principales: Negahdari, Samira, Zamani, Mina, Seifi, Tahereh, Sedighzadeh, Sahar, Mazaheri, Neda, Zeighami, Jawaher, Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, keikhaei, Bijan, Radpour, Ramin, Shariati, Gholamreza, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554563/
https://www.ncbi.nlm.nih.gov/pubmed/33088445
http://dx.doi.org/10.4103/ijpvm.IJPVM_462_19