학술논문
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*KIDNEYS
*ACIDOSIS
*
*
Language
ISSN
1061-4036
Abstract
Focuses on the detection of inactivating homozygous mutations in kidney SLC4A4 in two unrelated patients having permanent isolated proximal renal tubular acidosis with ocular abnormalities. Results of blood gas analysis; Genomic DNA sequencing of the kidney.