Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
about
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndromeGenetic causes of aortic aneurysms. Unlearning at least part of what the textbooks sayIdentification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiencyCloning of a candidate gene for ataxia-telangiectasia group DBiased exon/intron distribution of cryptic and de novo 3' splice sitesNature of mutation in the human hprt gene following in vivo exposure to ionizing radiation of cesium-137.A tale of two templates: automatically resolving double traces has many applications, including efficient PCR-based elucidation of alternative splices.Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patientsThe unexpected landscape of in vivo somatic mutation in a human epithelial cell lineageSevere gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.Clinical utility gene card for: Lesch-Nyhan syndrome.The molecular mechanism underlying formation of deletions in Fanconi anemia cells may involve a site-specific recombinationCharacterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.Quantification and molecular characterization of hprt mutants of human T-lymphocytes.Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase geneDetection of clinically relevant exonic copy-number changes by array CGH.DNA typing and genetic mapping with trimeric and tetrameric tandem repeatsAmerican Society of Human Genetics presidential address, October 18, 1990Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphismsMutator phenotypes in human colorectal carcinoma cell lines.Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.Use of 3' untranslated sequences of human cDNAs for rapid chromosome assignment and conversion to STSs: implications for an expression map of the genome.X-ray-induced mutations in mouse embryonic stem cells.In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous diseaseExpression of human immunodeficiency virus type 1 reverse transcriptase in trans during virion release and after infection.Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.The polymerase chain reaction in histopathology.Multifocal atrophy of cerebellar internal granular neurons in lesch-nyhan disease: case reports and review.Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.Mutagenicity and potential carcinogenicity of thiopurine treatment in patients with inflammatory bowel disease.Coupled amplification and sequencing of genomic DNA.Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxideNew dye-labeled terminators for improved DNA sequencing patternsA novel bipartite splicing enhancer modulates the differential processing of the human fibronectin EDA exon.Pentanucleotide repeat length polymorphism at the human CD4 locus.DNA diagnosis in monogenic diseases.Effect of 5' splice site mutations on splicing of the preceding intron.Molecular analysis of mutations at the HPRT and TK loci of human lymphoblastoid cells after combined treatments with 3'-azido-3'-deoxythymidine and 2',3'-dideoxyinosinedagger.High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.
P2860
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P2860
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
description
1990 nî lūn-bûn
@nan
1990 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@ast
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@en
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@nl
type
label
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@ast
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@en
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@nl
prefLabel
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@ast
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@en
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@nl
P2093
P1433
P1476
Multiplex DNA deletion detecti ...... gene in Lesch-Nyhan families.
@en
P2093
P304
P356
10.1016/0888-7543(90)90545-6
P577
1990-06-01T00:00:00Z