Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as we...

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Detalles Bibliográficos
Autores principales: Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804521/
https://www.ncbi.nlm.nih.gov/pubmed/31645973
http://dx.doi.org/10.1038/s41439-019-0066-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804521/
https://www.ncbi.nlm.nih.gov/pubmed/31645973
http://dx.doi.org/10.1038/s41439-019-0066-6

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