(Q34723162)

4 August 2017

title

Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene (English)

1 reference

4 August 2017

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Berkvens TM

1

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4 August 2017

Gerritsen EJ

2

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4 August 2017

Oldenburg M

3

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4 August 2017

Breukel C

4

1 reference

4 August 2017

Wijnen JT

5

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4 August 2017

van Ormondt H

6

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4 August 2017

Vossen JM

7

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4 August 2017

van der Eb AJ

8

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4 August 2017

Meera Khan P

9

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4 August 2017

language of work or name

English

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publication date

1 November 1987

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4 August 2017

published in

Nucleic Acids Research

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4 August 2017

volume

15

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4 August 2017

issue

22

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4 August 2017

page(s)

9365-9378

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Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Cloning of human adenosine deaminase cDNA and expression in mouse cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Structure of Adenosine Deaminase mRNAs From Normal and Adenosine Deaminase-Deficient Human Cell Lines

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Rosette-forming human lymphoid cell lines. I. Establishment and evidence for origin of thymus-derived lymphocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Removal of repeated sequences from hybridisation probes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Adenosine deaminase: characterization and expression of a gene with a remarkable promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Complete sequence and structure of the gene for human adenosine deaminase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Partial trisomy 20 confirmed by gene dosage studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Expression of class I major histocompatibility antigens switched off by highly oncogenic adenovirus 12 in transformed rat cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306474

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

26 October 2018

1 reference

12 December 2020

Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies

1 reference

12 December 2020

Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

12 December 2020

Isolation of mutant adenosine deaminase by coformycin affinity chromatography

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/15.22.9365

1 reference

4 August 2017

1 reference

4 August 2017

1 reference