Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.

Endocrine - 1 Jun 2010

Shao Leping, Xu Yan, Dong Qian, Lang Yanhua, Yue Shaoheng, Miao Zhimin

Abstract excerpt

Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron. We searched for SLC4A1 gene mutations in six patients from a Chinese family with a severe phenotype of dRTA (growth...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acidosis, Renal Tubular
Share to Aged
Share to Anion Exchange Protein 1, Erythrocyte

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Mutation

Share to Nephrocalcinosis

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 20960171
DOI: 10.1007/s12020-010-9340-6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20960171-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.PMID 20960171Read ↗

Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patientsSemantic proximity Read ↗

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.Semantic proximity Read ↗

[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].Semantic proximity Read ↗

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.Semantic proximity Read ↗

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.Semantic proximity Read ↗

A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.Semantic proximity Read ↗

Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families.Semantic proximity Read ↗

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.Semantic proximity Read ↗

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.Semantic proximity Read ↗

Clinical phenotype, family segregation, and follow-up of pediatric distal renal tubular acidosis associated with a homozygous SLC4A1 p.G701D variantSemantic proximity Read ↗

A novel SLC4A1 mutation in a 7 years-old Italian boy with hereditary spherocytosis and distal renal tubular acidosisSemantic proximity Read ↗

A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.