A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance

Aquaporin-4, encoded by AQP4, is the major water channel in the central nervous system and plays an important role in the brain's water balance, including edema formation and clearance. Using genomic copy-number analysis and trio-exome sequencing, we investigated a male patient with intellectua...

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Detalles Bibliográficos
Autores principales: Berland, Siren, Toft-Bertelsen, Trine L., Aukrust, Ingvild, Byska, Jan, Vaudel, Marc, Bindoff, Laurence A., MacAulay, Nanna, Houge, Gunnar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793774/
https://www.ncbi.nlm.nih.gov/pubmed/29437797
http://dx.doi.org/10.1101/mcs.a002303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793774/
https://www.ncbi.nlm.nih.gov/pubmed/29437797
http://dx.doi.org/10.1101/mcs.a002303

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