Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome

Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown. The rapid detection of recurrent SLC12A3 mutations may help in the early diagnosis of GS. This study was aimed to investigate the prevalenc...

Descripción completa

Detalles Bibliográficos
Autores principales: Yan, Ming-Tso, Yang, Sung-Sen, Tseng, Min-Hua, Cheng, Chih-Jen, Tsai, Jeng-Daw, Sung, Chih-Chien, Hsu, Yu-Juei, Lin, Shih-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363728/
https://www.ncbi.nlm.nih.gov/pubmed/34389731
http://dx.doi.org/10.1038/s41525-021-00230-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363728/
https://www.ncbi.nlm.nih.gov/pubmed/34389731
http://dx.doi.org/10.1038/s41525-021-00230-8

Ejemplares similares