Article

Founder Mutation p.C421F in SLC12A3 Underlies the High Prevalence of Gitelman Syndrome in the Yi Population of China

2025-07-23

Abstract excerpt

<title>Abstract</title> <p>Background Gitelman syndrome (GS) is an autosomal recessive inherited renal tubular disorder, primarily caused by mutations in the <italic>SLC12A3</italic> gene. Its prevalence varies significantly among different populations. Previous studies have found that the incidence rate in the Yunnan Yi community of China is notably higher. Factors such as the founder effect contribute to the un...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 40f7fe2c-d7c1-543d-aa3d-ff2def9d4be1
DOI: 10.21203/rs.3.rs-7109230/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Founder Mutation p.C421F in SLC12A3 Underlies the High Prevalence of Gitelman Syndrome in the Yi Population of ChinaDOI 10.21203/rs.3.rs-7109230/v1Read

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.Semantic proximity Read

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.Semantic proximity Read

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.Semantic proximity Read

A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.Semantic proximity Read

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.Semantic proximity Read

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Semantic proximity Read

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.Semantic proximity Read

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.Semantic proximity Read

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman SyndromeSemantic proximity Read

Clinical and genetic features in 30 children with Gitelman syndrome.Semantic proximity Read

Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese childrenSemantic proximity Read

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Semantic proximity Read