Isolated Congenital Anosmia and CNGA2 Mutation

Abstract Isolated congenital anosmia (ICA) is a rare condition that is associated with life-long inability to smell. Here we report a genetic characterization of a large Iranian family segregating ICA. Whole exome sequencing in five affected family members and five healthy members revealed a stop ga...

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Autores principales: M. Reza Sailani, Inlora Jingga, Seyed Hashem MirMazlomi, Fatemeh Bitarafan, Jonathan A. Bernstein, Michael P. Snyder, Masoud Garshasbi
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/252479d40f074f6aa2129cbca893ef7e
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