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

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.

Clinical nephrology - 1 Feb 2014

El Hayek Donia, Bouzidi Hassan, Pérez de Nanclares Gustavo, Soua Habib, Chibani Jemni Ben, Ariceta Gema, Castaño Luis, Khelil Amel Haj

Abstract excerpt

UNLABELLED: Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available. CASE REPORT: 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing demonstrated a novel homozygous G deletion in exon 13 (c.1221delG, p.Met408CysfsX10), leading...

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 Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Hearing

Share to Homozygote

Share to Tunisia

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 22854161
DOI: 10.5414/CN107505

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.PMID 22854161Read ↗

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genesSemantic proximity Read ↗

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.Semantic proximity Read ↗

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.Semantic proximity Read ↗

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.Semantic proximity Read ↗

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

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

Renal tubular acidosisSemantic proximity Read ↗

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.Semantic proximity Read ↗

Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Semantic proximity Read ↗

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.Semantic proximity Read ↗

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican familiesSemantic proximity Read ↗

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.Semantic proximity Read ↗

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