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.
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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesThe molecular pathology of primary immunodeficienciesPrimary immunodeficiencies associated with eosinophiliaEosinophilia Associated with Disorders of Immune Deficiency or Immune DysregulationMutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE reviewSevere combined immunodeficiencies (SCID)Adenosine deaminase: functional implications and different classes of inhibitors.Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.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.The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.Comparative analysis of sequence features involved in the recognition of tandem splice sites.Severe combined immunodeficiences: new and old scenarios.Severe combined immunodeficiency--an update.Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.Clustered charged amino acids of human adenosine deaminase comprise a functional epitope for binding the adenosine deaminase complexing protein CD26/dipeptidyl peptidase IV.Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.Adenosine deaminase deficiency: a review.
P2860
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P2860
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.
description
1993 nî lūn-bûn
@nan
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Novel splicing, missense, and ...... tion of genotype to phenotype.
@ast
Novel splicing, missense, and ...... tion of genotype to phenotype.
@en
type
label
Novel splicing, missense, and ...... tion of genotype to phenotype.
@ast
Novel splicing, missense, and ...... tion of genotype to phenotype.
@en
prefLabel
Novel splicing, missense, and ...... tion of genotype to phenotype.
@ast
Novel splicing, missense, and ...... tion of genotype to phenotype.
@en
P2093
P2860
P356
P1476
Novel splicing, missense, and ...... tion of genotype to phenotype.
@en
P2093
Arredondo-Vega FX
Hummell DS
Santisteban I
Sorensen RU
P2860
P304
P356
10.1172/JCI116833
P407
P577
1993-11-01T00:00:00Z