A Novel Missense Mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) Causes Proximal Tubular Acidosis and Glaucoma through Ion Transport Defects
Open Access
- 1 December 2004
- journal article
- case report
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 279 (50) , 52238-52246
- https://doi.org/10.1074/jbc.m406591200
Abstract
No abstract availableKeywords
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