The factor IX gene as a model for analysis of human germline mutations: an update.
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Estimate of the mutation rate per nucleotide in humansMutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolutionProteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainHuman whole-genome shotgun sequencing.Mutation analysis of a cohort of US patients with hemophilia B.The influence of genomic context on mutation patterns in the human genome inferred from rare variants.Measurements of spontaneous rates of mutations in the recent past and the near future.Formation and repair of DNA lesions in the p53 gene: relation to cancer mutations?Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age.Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.The molecular basis of haemophilia B.Frequency of recent retrotransposition events in the human factor IX gene.Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans.Modeling the maternal-age dependency of reproductive failure and genetic fitness.Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.How important is DNA replication for mutagenesis?
P2860
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P2860
The factor IX gene as a model for analysis of human germline mutations: an update.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
The factor IX gene as a model for analysis of human germline mutations: an update.
@en
type
label
The factor IX gene as a model for analysis of human germline mutations: an update.
@en
prefLabel
The factor IX gene as a model for analysis of human germline mutations: an update.
@en
P2860
P1476
The factor IX gene as a model for analysis of human germline mutations: an update.
@en
P2093
Ketterling RP
P2860
P304
P356
10.1093/HMG/5.SUPPLEMENT_1.1505
P478
P577
1996-01-01T00:00:00Z