Complete sequence and structure of the gene for human adenosine deaminase.
about
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesGenomic structure and chromosomal localization of the human deoxycytidine kinase geneIdentification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiencyMolecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiencyEffect of genetic factors on the association between coronary artery disease and PTPN22 polymorphismMutations in the human adenosine deaminase gene that affect protein structure and RNA splicingAdenosine deaminase: functional implications and different classes of inhibitors.Molecular organization of the human Raf-1 promoter region.Hot spot mutations in adenosine deaminase deficiency.Improved gene expression upon transfer of the adenosine deaminase minigene outside the transcriptional unit of a retroviral vector.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.Adenosine deaminase deficiency as the first target disorder in gene therapy.Novel families of interspersed repetitive elements from the human genome.Retroviral vector-mediated high-efficiency expression of adenosine deaminase (ADA) in hematopoietic long-term cultures of ADA-deficient marrow cells.Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase geneSp1 is essential for both enhancer-mediated and basal activation of the TATA-less human adenosine deaminase promoter.Efficient selection of 3'-terminal exons from vertebrate DNA.Recombination mediates production of an extrachromosomal circular DNA containing a transposon-like human element, THE-1Homozygosity 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 substitutionIdentification 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.Cell type-specific transcriptional regulation of the human adenosine deaminase gene.1995 William Allan Award address. Human genetics: a discipline at risk for fragmentationSomatic 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.The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNAXeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes.Expression of human adenosine deaminase in murine hematopoietic cells.The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genomeThe map of chromosome 20.Adenosine deaminase mRNA expression is regulated posttranscriptionally during differentiation of HL-60 cells.The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.An STS in the human adenosine deaminase gene (located 20q12-q13.11)Detection of PstI RFLP in human ADA by the polymerase chain reactionHuman transposon-like elements insert at a preferred target site: evidence for a retrovirally mediated process.Association of G22A and A4223C ADA1 gene polymorphisms and ADA activity with PCOS.Enzymatic and extraenzymatic role of ecto-adenosine deaminase in lymphocytes.Retroviral vectors encoding ADA regulatory locus control region provide enhanced T-cell-specific transgene expression.Low nucleotide diversity in man.
P2860
Q24539210-E12C3173-703D-4018-A28B-E93D5BAE027BQ24563825-02341DE6-D16F-43F8-BA64-F345275FEEA1Q24627783-4F460057-E3FD-4890-B33B-1C50389986F5Q24669781-1F91C5A1-4575-4130-BACC-2AF632272518Q27009002-38E843DC-00A7-4A3C-9452-1F3441C99054Q30405040-94E186D5-DBB5-4150-B9E1-84F0D4809417Q32063453-6D4FBB20-49B5-407E-9FB4-ECA28CD63ED8Q33255737-52AE9892-D451-4A18-9541-30A7D6D19EA5Q33740382-94FFF3D0-5EC0-420F-97E3-22CB6C8A9A5AQ33856071-7F2D2F57-57D7-48F4-A59F-BA00454A516DQ33907756-EBE515D0-7D7C-4DE4-89C5-D482E9034704Q34074759-59FBD4C3-8E1B-45D9-ABD2-7448233BE16FQ34149014-712ED985-2CF7-4D57-9F29-4369054ED390Q34301777-97FBB435-D6B6-44AF-96D1-B87D9E889C6CQ34723162-1441250C-181F-4D0F-A7CE-0550EB18BAE6Q34806706-00BFFE56-644D-4BD6-95AD-16B7CC681376Q35020287-52A9EB18-70D6-4ACE-B9EE-FD619494A069Q35161984-6A30336E-85A0-4306-9D82-73A1FB8D4912Q35196912-1D200EE8-5B64-4B58-B99E-7F0612A7FD11Q35197366-627E437A-3B27-4B5A-98E2-FE31C17DE335Q35248529-8268216E-82BF-412B-9170-A1BDFD3E1EC9Q35587356-31077ECC-9249-4C02-959A-7E68F89389FEQ35864934-004DFF54-A163-40EA-82F2-42B226382BCBQ35882478-CDEC1585-4894-477F-A0BE-37A14D60570AQ35889300-5EC9C0D6-0049-4048-A323-FD61F68507D3Q35889409-57191607-07E5-4BF8-B0A5-B28220F91A28Q35907237-095F380D-24BB-4EF4-BCD4-1320D1C92BCEQ36728551-192AB65A-A337-4699-9257-6F33854F43DEQ36849892-4FD2A00D-A36F-448C-9452-ECDBE68A00C3Q37737988-EC1E62E5-F733-4E37-A32A-FDE3F861D02AQ39568169-AC9B50BE-F801-44A7-8FC3-592CA90274B0Q40389773-76C64871-DEAB-4FF4-902B-9FE01183E5F8Q40448133-3F163BDD-77EF-41EB-9DE3-752017595BE3Q40507144-2372BFAB-3BEB-48D0-B84E-F9DD8798869FQ40507718-40101466-53CF-4D8C-803E-2F6BE1A543FFQ40537128-C5718C30-08CF-4F3F-8126-A6971B087670Q40852075-6A40F3D5-85FF-4905-A104-6BD48B32DFAFQ41745077-DEB007DB-1A3B-4F13-AB36-B9C793E21390Q41844097-1DFEF6D0-6824-4CEC-8E6F-42738BD2CBBAQ42066951-3F8CC65F-1F92-44BB-9B71-5E7FD354B099
P2860
Complete sequence and structure of the gene for human adenosine deaminase.
description
1986 nî lūn-bûn
@nan
1986 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Complete sequence and structure of the gene for human adenosine deaminase.
@ast
Complete sequence and structure of the gene for human adenosine deaminase.
@en
Complete sequence and structure of the gene for human adenosine deaminase.
@nl
type
label
Complete sequence and structure of the gene for human adenosine deaminase.
@ast
Complete sequence and structure of the gene for human adenosine deaminase.
@en
Complete sequence and structure of the gene for human adenosine deaminase.
@nl
prefLabel
Complete sequence and structure of the gene for human adenosine deaminase.
@ast
Complete sequence and structure of the gene for human adenosine deaminase.
@en
Complete sequence and structure of the gene for human adenosine deaminase.
@nl
P2093
P356
P1433
P1476
Complete sequence and structure of the gene for human adenosine deaminase.
@en
P2093
Lattier DL
Wiginton DA
P304
P356
10.1021/BI00373A017
P407
P577
1986-12-01T00:00:00Z