(Q35889300)

English

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery

scientific article published in July 1994

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

1 reference

based on heuristic

inferred from title

author name string

R Hirschhorn

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

D R Yang

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

A Israni

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

M L Huie

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

D R Ownby

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

0 references

publication date

1 July 1994

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

55

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

59-68

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Characteristics of an aminohydrolase distinct from adenosine deaminase in cultured human lymphoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Cloning of human adenosine deaminase cDNA and expression in mouse cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Human adenosine deaminase. cDNA and complete primary amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Complete sequence and structure of the gene for human adenosine deaminase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Isolation and mapping of a polymorphic DNA sequence (pCMM6) on chromosome 20 [D20S19]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Genetic linkage map of 46 DNA markers on human chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Hot spot mutations in adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Molecular analysis of hemophilia A mutations in the Finnish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Adenosine deaminase activity in chronic lymphocytic leukemia. Relationship to B- and T-cell subpopulations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

The distribution of adenosine deaminase among lymphocyte populations in the rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

11 July 2018

Comparison and Possible Homology of Isozymes of Adenosine Deaminase in Aves and Humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918232

24 September 2018

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of adenosine on mitogenesis of ADA-deficient lymphocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult presentation of adenosine deaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8023852

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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