(Q41953970)

English

A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis

scientific article published on 24 March 2016

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

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A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis (English)

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

1 reference

based on heuristic

inferred from title

corrigendum / erratum

Erratum: A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis

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author name string

Eri Imai

1

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Shuzo Kaneko

2

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Takayasu Mori

3

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Tomokazu Okado

4

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Shinichi Uchida

5

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Yusuke Tsukamoto

6

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

publication date

24 March 2016

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association)

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

9

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

424-428

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Everything you need to know about distal renal tubular acidosis in autoimmune disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Regulation of luminal acidification by the V-ATPase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Renal tubular acidosis: the clinical entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

5 June 2018

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Genetic causes and mechanisms of distal renal tubular acidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886904

18 August 2018

Identifiers

10.1093/CKJ/SFW008

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

ResearchGate publication ID

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