Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.
about
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.High frequency of large intragenic deletions in the Fanconi anemia group A gene.Zinc finger point mutations within the WT1 gene in Wilms tumor patientsStructural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase diseaseScanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavageCharacterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domaintra-2 encodes a membrane protein and may mediate cell communication in the Caenorhabditis elegans sex determination pathwayDiverse mutations in patients with Menkes disease often lead to exon skippingIdentification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosisInsertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiencyImproved molecular diagnostics for ornithine transcarbamylase deficiencyDetection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingChemical cleavage reactions of DNA on solid support: application in mutation detectionDetection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanningNovel mutations and polymorphisms in the Fanconi anemia group C genePolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencingMutation detection using mass spectrometric separation of tiny oligonucleotide fragments.High-throughput MALDI-TOF discovery of genomic sequence polymorphismsMutant profiles of selectable genetic elements.Genetic disease detection and DNA amplification using cloned thermostable ligase.A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a modelMolecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.Mild phenotypic manifestation of a 7p15.3p21.2 deletionCharacterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IVDetermination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.Enzymatic and chemical cleavage methods.5-methylcytosine in RNA: detection, enzymatic formation and biological functions.p53 mutations in colorectal cancerAutomated DNA diagnostics using an ELISA-based oligonucleotide ligation assay.Mismatch-targeted transposition of Mu: a new strategy to map genetic polymorphismPrognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.A chemical mismatch cleavage method useful for the detection of point mutations in the p53 gene in lung cancer.Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.PCR candidate region mismatch scanning: adaptation to quantitative, high-throughput genotypingDetection of specific DNA sequences by fluorescence amplification: a color complementation assay.Single nucleotide polymorphism seeking long term association with complex diseaseExhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.DNA variation in a 5-Mb region of the X chromosome and estimates of sex-specific/type-specific mutation rates.
P2860
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P2860
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունիսին հրատարակված գիտական հոդված
@hy
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
name
Reactivity of cytosine and thy ...... ion to the study of mutations.
@ast
Reactivity of cytosine and thy ...... ion to the study of mutations.
@en
Reactivity of cytosine and thy ...... ion to the study of mutations.
@nl
type
label
Reactivity of cytosine and thy ...... ion to the study of mutations.
@ast
Reactivity of cytosine and thy ...... ion to the study of mutations.
@en
Reactivity of cytosine and thy ...... ion to the study of mutations.
@nl
prefLabel
Reactivity of cytosine and thy ...... ion to the study of mutations.
@ast
Reactivity of cytosine and thy ...... ion to the study of mutations.
@en
Reactivity of cytosine and thy ...... ion to the study of mutations.
@nl
P2093
P2860
P356
P1476
Reactivity of cytosine and thy ...... ion to the study of mutations.
@en
P2093
N R Rodrigues
R D Campbell
R G Cotton
P2860
P304
P356
10.1073/PNAS.85.12.4397
P407
P577
1988-06-01T00:00:00Z