Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration (3∼17 mmol/L). In addition, they are often ac...

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Bibliographic Details
Main Authors: Yan Liu, Wenchao Sheng, Jinying Wu, Jie Zheng, Xiufang Zhi, Shuyue Zhang, Chunyu Gu, Detong Guo, Wenhong Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Pediatrics
Subjects:
compound heterozygous variants
SLC4A4
pre-mRNA
minigene assay
splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.890147/full

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