Isolated Congenital Anosmia and CNGA2 Mutation

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 gain mutati...

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Detalles Bibliográficos
Autores principales: Sailani, M. Reza, Jingga, Inlora, MirMazlomi, Seyed Hashem, Bitarafan, Fatemeh, Bernstein, Jonathan A., Snyder, Michael P., Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454015/
https://www.ncbi.nlm.nih.gov/pubmed/28572688
http://dx.doi.org/10.1038/s41598-017-02947-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454015/
https://www.ncbi.nlm.nih.gov/pubmed/28572688
http://dx.doi.org/10.1038/s41598-017-02947-y

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