Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency
about
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesFabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneIdentification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiencyOrnithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneHuman genetic basis of interindividual variability in the course of infectionMutations in the human adenosine deaminase gene that affect protein structure and RNA splicingAdenosine deaminase: functional implications and different classes of inhibitors.Hot spot mutations in adenosine deaminase deficiency.DNA analysis in human diseaseNovel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiencySevere combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase geneImmunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindHomozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).A high proportion of ADA point mutations associated with a specific alanine-to-valine substitutionFamilial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locusAdenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleusActivity of the adenosine deaminase promoter in transgenic mice.The map of chromosome 20.New restriction endonuclease CviRI cleaves DNA at TG/CA sequencesHuman genetics of infectious diseases: Unique insights into immunological redundancy.
P2860
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P2860
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency
description
1985 nî lūn-bûn
@nan
1985 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1985 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
Identification of a point muta ...... sponsible for immunodeficiency
@ast
Identification of a point muta ...... sponsible for immunodeficiency
@en
Identification of a point muta ...... sponsible for immunodeficiency
@nl
type
label
Identification of a point muta ...... sponsible for immunodeficiency
@ast
Identification of a point muta ...... sponsible for immunodeficiency
@en
Identification of a point muta ...... sponsible for immunodeficiency
@nl
prefLabel
Identification of a point muta ...... sponsible for immunodeficiency
@ast
Identification of a point muta ...... sponsible for immunodeficiency
@en
Identification of a point muta ...... sponsible for immunodeficiency
@nl
P2093
P2860
P356
P1476
Identification of a point muta ...... sponsible for immunodeficiency
@en
P2093
A F Markham
D Ginsburg
D T Bonthron
P2860
P356
10.1172/JCI112050
P407
P577
1985-08-01T00:00:00Z