(Q24315649)

ATPase H transporting V0 subunit a4

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

hearing

1 reference

GOA release 2020-03-11

hearing loss

1 reference

distal renal tubular acidosis

inferred from title

1 reference

inferred from title

renal tubular acidosis

1 reference

E H Stover

1

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K J Borthwick

2

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C Bavalia

3

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N Eady

4

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D M Fritz

5

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N Rungroj

6

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A B S Giersch

7

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C C Morton

8

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P R Axon

9

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I Akil

10

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E A Al-Sabban

11

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D M Baguley

12

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S Bianca

13

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A Bakkaloglu

14

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Z Bircan

15

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D Chauveau

16

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M-J Clermont

17

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A Guala

18

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S A Hulton

19

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H Kroes

20

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G Li Volti

21

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S Mir

22

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H Mocan

23

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A Nayir

24

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S Ozen

25

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J Rodriguez Soriano

26

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S A Sanjad

27

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V Tasic

28

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C M Taylor

29

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R Topaloglu

30

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A N Smith

31

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F E Karet

Journal of Medical Genetics

32

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language of work or name

English

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publication date

November 2002

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published in

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volume

39

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issue

11

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page(s)

796-803

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cites work

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

The vacuolar (H )-ATPases--nature's most versatile proton pumps

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Site-directed mutagenesis of the 100-kDa subunit (Vph1p) of the yeast vacuolar (H )-ATPase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Parametric and nonparametric linkage analysis: a unified multipoint approach

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Statistical features of human exons and their flanking regions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Structural properties of the proton translocating complex of the clathrin-coated vesicle

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Localization of pH regulating proteins H ATPase and exchanger in the guinea pig inner ear

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

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=1735017

Uses and abuses of hearing loss classification

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735017

Function of the COOH-terminal Domain of Vph1p in Activity and Assembly of the Yeast V-ATPase

29 November 2018

1 reference

12 December 2020

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

1 reference

12 December 2020

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

1 reference

12 December 2020

Splice site mutations are a common cause of X-linked chronic granulomatous disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.11.796

1 reference

1 reference

1 reference

PubMed publication ID

12414817

1 reference