Publication details

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

Authors

BERLAND Siren TOFT-BERTELSEN Trine L AUKRUST Ingvild BYŠKA Jan VAUDEL Marc BINDOFF Laurence MACAULAY Nanna HOUGE Gunnar

Year of publication 2018
Type Article in Periodical
Magazine / Source Molecular Case Studies
Citation
Description anglicky

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