Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.
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Are rare variants responsible for susceptibility to complex diseases?The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesOscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.Uncertainty principle of genetic information in a living cell.Substitution patterns are under different influences in primates and rodentsMarked variation in predicted and observed variability of tandem repeat loci across the human genome.The tendency to recreate ancestral CG dinucleotides in the human genomeA population genetic approach to mapping neurological disorder genes using deep resequencing.Mutation analysis of the entire PKD1 gene: genetic and diagnostic implicationsThe X chromosome and the rate of deleterious mutations in humansMutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomesDeterminants of CpG islands: expression in early embryo and isochore structureHaemophilia B: from molecular diagnosis to gene therapy.DNA sequence variation of Homo sapiens.A genome-wide view of the spectrum of spontaneous mutations in yeast.A genome-wide view of Caenorhabditis elegans base-substitution mutation processes.Selective sweeps and parallel mutation in the adaptive recovery from deleterious mutation in Caenorhabditis elegans.Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesisRecurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.Meiotic recombination strongly influences GC-content evolution in short regions in the mouse genome.Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene.DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a hemophilia B mutation (IVS 5+13 A-->G).Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.DHPLC analysis of the MECP2 gene in Italian Rett patients.The covariation between TpA deficiency, CpG deficiency, and G+C content of human isochores is due to a mathematical artifact.
P2860
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P2860
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@ast
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@en
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@nl
type
label
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@ast
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@en
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@nl
prefLabel
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@ast
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@en
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@nl
P2093
P2860
P356
P1476
Mutation rates in humans. II. ...... ns inferred from hemophilia B.
@en
P2093
F Giannelli
T Anagnostopoulos
P2860
P304
P356
10.1086/302652
P407
P577
1999-12-01T00:00:00Z