![]() Expression of human adenosine deaminase after fusion of adenosine deaminase-deficient cells with mouse fibroblasts. Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH. Genetic heterogeneity in partial adenosine deaminase deficiency. Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency. Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: segregation of genotypes with specific ethnicities. Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency. Hirschhorn R, Nicknam MN, Eng F, Yang DR, Borkowsky W. Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. Adenosine deaminase deficiency in severe combined immunodeficiency: evidence for a posttranslational defect. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. cDNA and complete primary amino acid sequence. Adenosine deaminase: characterization and expression of a gene with a remarkable promoter. Complete sequence and structure of the gene for human adenosine deaminase. ![]() Cloning of cDNA sequences of human adenosine deaminase. Wiginton DA, Adrian GS, Friedman RL, Suttle DP, Hutton JJ. New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H. How we manage adenosine deaminase-deficient severe combined immune deficiency (ADA SCID). Seattle (WA): University of Washington, Seattle 1993–2016. ![]() In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. ![]() Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |