(Q40411058)

20 September 2017

1 reference

title

Adenosine deaminase deficiency: molecular basis and recent developments (English)

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adenosine deaminase deficiency

20 September 2017

1 reference

Hirschhorn R

1

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20 September 2017

1 September 1995

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Clinical Immunology and Immunopathology

20 September 2017

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20 September 2017

76

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20 September 2017

S219-27

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20 September 2017

3 Pt 2

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

20 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Adult presentation of adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Direct association of adenosine deaminase with a T cell activation antigen, CD26

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Deficiency of adenosine deaminase not associated with severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Adenosine deaminase deficiency: Frequency and comparative pathology in autosomally recessive severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Amerioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Abnormal platelet aggregation in severe combined immunodeficiency disease with adenosine deaminase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Cloning of human adenosine deaminase cDNA and expression in mouse cells

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Sequence of human adenosine deaminase cDNA including the coding region and a small intron

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Functional analysis of the human adenosine deaminase gene thymic regulatory region and its ability to generate position-independent transgene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1016%2FS0090-1229%2895%2990288-0

7 January 2021

10.1016/S0090-1229(95)90288-0

Identifiers

DOI

1 reference

20 September 2017

1 reference

PubMed ID

7554472