Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.
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Bias in the introduction of variation as an orienting factor in evolutionFas-associated death domain protein interacts with methyl-CpG binding domain protein 4: a potential link between genome surveillance and apoptosisThe amino-acid mutational spectrum of human genetic diseaseThe functional importance of disease-associated mutationOscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disordersNonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the StoryRelating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR)A potential role for glucose transporters in the evolution of human brain sizeThe mutational spectrum of non-CpG DNA varies with CpG contentUse of mutation spectra analysis software.DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsA Simple Model-Based Approach to Inferring and Visualizing Cancer Mutation Signatures.Spectrum of disease-causing mutations in protein secondary structuresThe low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.A novel statistical method to estimate the effective SNP size in vertebrate genomes and categorized genomic regions.Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations.Large-scale inference of the point mutational spectrum in human segmental duplicationsThe use of orthologous sequences to predict the impact of amino acid substitutions on protein function.Patterns of nucleotides that flank substitutions in human orthologous genes.Human triallelic sites: evidence for a new mutational mechanism?The new field of epigenomics: implications for cancer and other common disease research.Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.Dependence of mutational asymmetry on gene-expression levels in the human genome.Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesA codon substitution model that incorporates the effect of the GC contents, the gene density and the density of CpG islands of human chromosomesGene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levelsAn approach for global scanning of single nucleotide variationsNew insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.PCR candidate region mismatch scanning: adaptation to quantitative, high-throughput genotypingEvidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.The exchangeability of amino acids in proteinsVariation in mutation dynamics across the maize genome as a function of regional and flanking base composition.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outstide Africa.Nonsense-mediated decay in genetic disease: friend or foe?Comparative mutational analyses of influenza A viruses.
P2860
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P2860
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Neighboring-nucleotide effects ...... r substitution in human genes.
@ast
Neighboring-nucleotide effects ...... r substitution in human genes.
@en
Neighboring-nucleotide effects ...... r substitution in human genes.
@nl
type
label
Neighboring-nucleotide effects ...... r substitution in human genes.
@ast
Neighboring-nucleotide effects ...... r substitution in human genes.
@en
Neighboring-nucleotide effects ...... r substitution in human genes.
@nl
prefLabel
Neighboring-nucleotide effects ...... r substitution in human genes.
@ast
Neighboring-nucleotide effects ...... r substitution in human genes.
@en
Neighboring-nucleotide effects ...... r substitution in human genes.
@nl
P2860
P356
P1476
Neighboring-nucleotide effects ...... r substitution in human genes.
@en
P2093
P2860
P304
P356
10.1086/301965
P407
P577
1998-08-01T00:00:00Z