ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

by Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear
Published 2016-01-01

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

by Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Published 2019-05-01