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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Detalles Bibliográficos
Autores principales: Liu, Yan, Sheng, Wenchao, Wu, Jinying, Zheng, Jie, Zhi, Xiufang, Zhang, Shuyue, Gu, Chunyu, Guo, Detong, Wang, Wenhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428394/
https://www.ncbi.nlm.nih.gov/pubmed/36061388
http://dx.doi.org/10.3389/fped.2022.890147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428394/
https://www.ncbi.nlm.nih.gov/pubmed/36061388
http://dx.doi.org/10.3389/fped.2022.890147

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