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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Veröffentlicht in:Sci Rep
Hauptverfasser: Sailani, M. Reza, Jingga, Inlora, MirMazlomi, Seyed Hashem, Bitarafan, Fatemeh, Bernstein, Jonathan A., Snyder, Michael P., Garshasbi, Masoud
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454015/
https://ncbi.nlm.nih.gov/pubmed/28572688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02947-y
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