(Q33560944)

28 July 2017

title

N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome (English)

1 reference

28 July 2017

S E Lewis

1

1 reference

28 July 2017

R P Erickson

2

1 reference

28 July 2017

L B Barnett

3

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28 July 2017

P J Venta

4

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28 July 2017

R E Tashian

5

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28 July 2017

language of work or name

English

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publication date

1 March 1988

1 reference

Proceedings of the National Academy of Sciences of the United States of America

28 July 2017

published in

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28 July 2017

volume

85

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28 July 2017

issue

6

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28 July 2017

page(s)

1962-1966

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Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

28 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=279901

Morphological evidence of reduced bone resorption in osteopetrotic (op) mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Electrophoretically detected germinal mutations induced in the mouse by ethylnitrosourea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Analysis of a mouse alpha-globin gene mutation induced by ethylnitrosourea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Linkage of genes for adult alpha-globin and embryonic alpha-like globin chains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

The determination of osteopetrotic phenotypes by selective inactivation of red cell carbonic anhydrase isoenzymes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

A mutation in the beta-globin gene detected in the progeny of a female mouse treated with ethylnitrosourea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Structure and exon to protein domain relationships of the mouse carbonic anhydrase II gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Radiation-induced mutations at mouse hemoglobin loci

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Evolution of mammalian carbonic anhydrase loci by tanden duplication: close linkage of Car-1 and Car-2 to the centromere region of chromosome 3 of the mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

The immunohistolocalization of carbonic anhydrase in rodent tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=279901

Osteopetrosis associated with proximal and distal tubular acidosis

31 October 2018

1 reference

12 December 2020

[Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]

1 reference

12 December 2020

Renal Tubular Acidosis and Osteopetrosis in Siblings

1 reference

12 December 2020

Ammonia partitioning between glutamine and urea: interorgan participation in metabolic acidosis

1 reference

12 December 2020

The value of inherited deficiencies of human carbonic anhydrase isozymes in understanding their cellular roles

1 reference

12 December 2020

Carbonic anhydrase isozymes of osteoclasts and erythrocytes of osteopetrotic microphthalmic mice

1 reference

12 December 2020

Dominant visible and electrophoretically expressed mutations induced in male mice exposed to ethylene oxide by inhalation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.85.6.1962

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28 July 2017

0 references

1 reference

28 July 2017

1 reference