(Q24534382)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

distal renal tubular acidosis

2 November 2019

main subject

1 reference

based on heuristic

inferred from title

renal tubular acidosis

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

K E Finberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Nayir

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Bakkaloglu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S Ozen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S A Hulton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S A Sanjad

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E A Al-Sabban

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

J F Medina

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

R P Lifton

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

1656-1665

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Structure, function and regulation of the vacuolar (H+)-ATPase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Chromosomal localization of a human band 3-like gene to region 7q35----7q36

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Disorders of distal acidification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

The structure and biochemistry of the vacuolar H+ ATPase in proximal and distal urinary acidification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Attainment and Maintenance of Normal Stature with Alkali Therapy in Infants and Children with Classic Renal Tubular Acidosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Characterization and regulation of H-K-ATPase in intercalated cells of rabbit cortical collecting duct

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Hearing impairment in association with distal renal tubular acidosis among Saudi children.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288376

Dehydration and acidosis with calcification at renal tubules

29 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302679

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/302679

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577919%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

2 references