Tranebjærg, Lisbeth <br/><br/>
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.  [electronic resource] 

 -  Human genetics  Feb 2018 
 - 111-127 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-017-1862-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Cerebellar Ataxia--epidemiology<br/>Child<br/>Child, Preschool<br/>Denmark--epidemiology<br/>Female<br/>Foot Deformities, Congenital--epidemiology<br/>Germany--epidemiology<br/>Hearing Loss, Central--epidemiology<br/>Hearing Loss, Sensorineural--epidemiology<br/>Humans<br/>Male<br/>Molecular Dynamics Simulation<br/>Mutation, Missense--genetics<br/>Optic Atrophy--epidemiology<br/>Phenotype<br/>Reflex, Abnormal--genetics<br/>Retrospective Studies<br/>Sodium-Potassium-Exchanging ATPase--chemistry<br/>Sweden--epidemiology<br/>Young Adult