(Q33832879)

29 July 2017

title

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families (English)

1 reference

distal renal tubular acidosis

29 July 2017

1 reference

1 reference

based on heuristic

inferred from title

renal tubular acidosis

1 reference

based on heuristic

inferred from title

sensorineural hearing loss

1 reference

Mustafa Tekin

5

0 references

author name string

Asli Subasioglu Uzak

1

1 reference

29 July 2017

Nilgun Cakar

2

1 reference

29 July 2017

Elif Comak

3

1 reference

29 July 2017

Fatos Yalcinkaya

4

1 reference

29 July 2017

publication date

7 August 2013

1 reference

29 July 2017

1 reference

29 July 2017

volume

35

1 reference

29 July 2017

issue

9

1 reference

29 July 2017

page(s)

1281-1284

1 reference

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Mice lacking the B1 subunit of H+ -ATPase have normal hearing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

28 July 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F0886022X.2013.824362

Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5483946

Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23923981

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3109/0886022X.2013.824362

1 reference

29 July 2017

1 reference

29 July 2017

1 reference