| scholarly article | Q13442814 |
| P2093 | author name string | F X Arredondo-Vega | |
| I Santisteban | |||
| S Kelly | |||
| D T Umetsu | |||
| M S Hershfield | |||
| C M Schlossman | |||
| P2860 | cites work | Sequence of full length cDNA for human S-adenosylhomocysteine hydrolase | Q24337509 |
| Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides | Q24561454 | ||
| Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency | Q24563899 | ||
| An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds | Q24564840 | ||
| RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression | Q24633499 | ||
| A catalogue of splice junction sequences | Q27860696 | ||
| Organization and expression of eucaryotic split genes coding for proteins | Q27861081 | ||
| A point mutation in the conserved hexanucleotide at a yeast 5' splice junction uncouples recognition, cleavage, and ligation | Q70085295 | ||
| Normal and mutant human β-globin pre-mRNAs are faithfully and efficiently spliced in vitro | Q70196254 | ||
| Adult presentation of adenosine deaminase deficiency | Q72220530 | ||
| A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron | Q72738345 | ||
| Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity | Q93729850 | ||
| Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency | Q28361598 | ||
| The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences | Q29619441 | ||
| Splicing of messenger RNA precursors | Q29619934 | ||
| Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing | Q30405040 | ||
| 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 | Q33907756 | ||
| Interference of nonsense mutations with eukaryotic messenger RNA stability | Q34037213 | ||
| Complete sequence and structure of the gene for human adenosine deaminase | Q34162954 | ||
| Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency | Q34257919 | ||
| Sequence of human adenosine deaminase cDNA including the coding region and a small intron | Q35268264 | ||
| Cloning of cDNA sequences of human adenosine deaminase | Q36592285 | ||
| Nonsense mutations in the dihydrofolate reductase gene affect RNA processing | Q36769262 | ||
| Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing | Q37132263 | ||
| On the origin of RNA splicing and introns | Q38151500 | ||
| Normal and mutant human adenosine deaminase genes | Q38619586 | ||
| DNA nicking favors PCR recombination | Q40510193 | ||
| DNA recombination during PCR. | Q40515497 | ||
| In Vivo and in Vitro Effects of Thymosin and Adenosine Deaminase on Adenosine-Deaminase-Deficient Lymphocytes | Q40699346 | ||
| A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site. | Q41107145 | ||
| Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients | Q41315636 | ||
| Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse | Q41381072 | ||
| A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA. | Q41566875 | ||
| Mutation of the conserved first nucleotide of a group II intron from yeast mitochondrial DNA reduces the rate but allows accurate splicing | Q42616422 | ||
| A PCR artifact: generation of heteroduplexes | Q43076454 | ||
| Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency | Q43909807 | ||
| A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing. | Q44183759 | ||
| A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. | Q48251777 | ||
| A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing | Q48403956 | ||
| Intron sequences involved in lariat formation during pre-mRNA splicing. | Q52465948 | ||
| Role of the 3' splice site consensus sequence in mammalian pre-mRNA splicing. | Q54454347 | ||
| Exon mutations uncouple 5' splice site selection from U1 snRNA pairing. | Q54706243 | ||
| Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe | Q57784152 | ||
| Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes | Q58485019 | ||
| Stepwise assembly of a pre-mRNA splicing complex requires U-snRNPs and specific intron sequences | Q64380337 | ||
| Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit β-globin gene | Q67260093 | ||
| Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase | Q68095975 | ||
| Consistent cytogenetic aberrations in hepatoblastoma: a common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies? | Q68244537 | ||
| Trisomy 2 and 20 in two hepatoblastomas | Q68248441 | ||
| Probable autoimmune thyroid disease and combined immunodeficiency disease | Q68806986 | ||
| Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency | Q68994616 | ||
| Leukocyte adhesion deficiency. Aberrant splicing of a conserved integrin sequence causes a moderate deficiency phenotype | Q69052975 | ||
| 5' cleavage site in eukaryotic pre-mRNA splicing is determined by the overall 5' splice region, not by the conserved 5' GU | Q69336145 | ||
| Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences | Q69403213 | ||
| The organization of 3' splice-site sequences in mammalian introns | Q69452890 | ||
| Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA | Q69660486 | ||
| A mutational analysis of spliceosome assembly: evidence for splice site collaboration during spliceosome formation | Q69811708 | ||
| Molecular consequences of specific intron mutations on yeast mRNA splicing in vivo and in vitro | Q69899506 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | sibling | Q31184 |
| P304 | page(s) | 820-830 | |
| P577 | publication date | 1994-05-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | 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 | |
| P478 | volume | 54 |
| Q41818557 | A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report |
| Q54229015 | Adenosine deaminase deficiency: a review. |
| Q24539210 | Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles |
| Q41521392 | Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency |
| Q54577574 | Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency. |
| Q24529980 | Species-specific alternative splicing of the epidermal growth factor-like domain 1 of cartilage aggrecan |
| Q35239086 | The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. |
| Q35431275 | Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. |
| Q41521428 | When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications |
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