Ontology highlight
ABSTRACT:
SUBMITTER: DU J
PROVIDER: S-EPMC7389662 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
DU Juan J Pang Qian-Qian QQ Jiang Yan Y Wang Ou O Li Mei M Xing Xiao-Ping XP Xia Wei-Bo WB
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20170401 4
<h4>Objective</h4>To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1.<h4>Methods</h4>Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations.<h4>Results</h4>Three patients in these two families (two of them were mother and son) were diag ...[more]