Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency
about
Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiencyTransient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitutionA point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaParadoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiencyMolecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNASequence of human adenosine deaminase cDNA including the coding region and a small intron.Cell type-specific transcriptional regulation of the human adenosine deaminase gene.Molecular cloning of human terminal deoxynucleotidyltransferase.Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.Cloning of cDNA sequences of human adenosine deaminase.Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.The map of chromosome 20.Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.Functional analysis of the human adenosine deaminase gene thymic regulatory region and its ability to generate position-independent transgene expression.Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.
P2860
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P2860
Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency
description
1983 nî lūn-bûn
@nan
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
1983年论文
@zh
1983年论文
@zh-cn
name
Adenosine deaminase messenger ...... adenosine deaminase deficiency
@en
type
label
Adenosine deaminase messenger ...... adenosine deaminase deficiency
@en
prefLabel
Adenosine deaminase messenger ...... adenosine deaminase deficiency
@en
P2860
P356
P1476
Adenosine deaminase messenger ...... adenosine deaminase deficiency
@en
P2093
G S Adrian
J J Hutton
P2860
P304
P356
10.1172/JCI110920
P407
P577
1983-06-01T00:00:00Z