(Q24678433)

English

Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene

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scholarly article

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Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene (English)

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author name string

P J Venta

1

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R J Welty

2

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T M Johnson

3

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W S Sly

4

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R E Tashian

5

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language of work or name

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publication date

November 1991

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American Journal of Human Genetics

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49

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1082-90

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5

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Nucleotide sequence of human liver carbonic anhydrase II cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Crystal structure of human erythrocyte carbonic anhydrase B. Three-dimensional structure at a nominal 2.2-A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Comparison of the 5' regions of human and mouse carbonic anhydrase II genes and identification of possible regulatory elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Production of active human carbonic anhydrase II in E. coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Yeast RNA Polymerase II Genes: Isolation with Antibody Probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Lambda replacement vectors carrying polylinker sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Dideoxy sequencing method using denatured plasmid templates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

7 April 2017

Vaccinia virus gene D8 encodes a virion transmembrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

The chicken carbonic anhydrase II gene: evidence for a recent shift in intron position

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Molecular analysis of G+C-rich upstream sequences regulating transcription of the human carbonic anhydrase II gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Human muscle carbonic anhydrase: gene structure and DNA methylation patterns in fetal and adult tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

The mouse carbonic anhydrase I gene contains two tissue-specific promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

The carbonic anhydrases: widening perspectives on their evolution, expression and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Mice carrying a CAR-2 null allele lack carbonic anhydrase II immunohistochemically and show vascular calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Improvement of PCR amplified DNA sequencing with the aid of detergents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

cDNA cloning, sequence, and expression of carbonic anhydrase in Chlamydomonas reinhardtii: regulation by environmental CO2 concentration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Nucleotide and derived amino-acid sequence of a cDNA encoding a new mouse carbonic anhydrase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

28 September 2017

Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

30 May 2018

Multiple GF-1 binding sites flank the erythroid specific transcription unit of the human carbonic anhydrase I gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

30 May 2018

Carbonic anhydrase II is induced in HL-60 cells by 1,25-dihydroxyvitamin D3: a model for osteoclast gene regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

30 May 2018

Sequence of a novel carbonic anhydrase-related polypeptide and its exclusive presence in Purkinje cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683243

30 May 2018

Osteopetrosis associated with proximal and distal tubular acidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1928091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"ATG vectors' for regulated high-level expression of cloned genes in Escherichia coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/1928091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]

1 reference

https://pubmed.ncbi.nlm.nih.gov/1928091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbonic anhydrase activity of intact carbonic anhydrase II-deficient human erythrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1928091

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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