Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
about
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant allelesClusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangementsFabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase geneNewly arisen DNA repeats in primate phylogeny.Localization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemiaHomozygous hereditary C3 deficiency due to a partial gene deletion.Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiencyShort, direct repeats at the breakpoints of deletions of the retinoblastoma gene.The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia.The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.Homozygosity 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 substitutionA high frequency of length polymorphisms in repeated sequences adjacent to Alu sequencesInsertion of the B2 sequence into intron 13 is the only defect of the H-2k C4 gene which causes low C4 production.Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.Winner of the Theodore E. Woodward Award: c-Myb and the coordinate regulation of thymic genes.Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletionSplice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutationGenesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.Sequence conservation in Alu evolution.Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D-- phenotype.
P2860
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P2860
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@ast
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@en
type
label
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@ast
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@en
prefLabel
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@ast
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@en
P2093
P2860
P356
P1476
Adenosine deaminase (ADA) defi ...... tion between two Alu elements.
@en
P2093
D A Wiginton
J C States
J J Hutton
M L Markert
R E Kaufman
P2860
P304
P356
10.1172/JCI113458
P407
P577
1988-05-01T00:00:00Z