(Q40514889)

21 September 2017

1 reference

title

Recent human germ-line mutation: inferences from patients with hemophilia B. (English)

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21 September 2017

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Sommer SS

1

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21 September 2017

1 April 1995

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21 September 2017

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21 September 2017

11

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21 September 2017

141-147

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21 September 2017

4

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How much do we know about spontaneous human mutation rates?

21 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans?: lesions from the human factor IX gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Deletions with inversions: report of a mutation and review of the literature.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

DNA inversions in phages and bacteria

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

"Cryptic" dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

1 reference

7 January 2021

Clinical implications of the p53 tumor-suppressor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Novel pattern of p53 gene mutations in an American black cohort with high mortality from breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Does cancer kill the individual and save the species?

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Ionizing radiation-induced mutagenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Endogenous DNA damage as related to cancer and aging

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Hypermutability and mismatch repair deficiency in RER+ tumor cells

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Triplet repeat mutations in human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

The mosaic genome of warm-blooded vertebrates

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2800%2989028-9

7 January 2021

10.1016/S0168-9525(00)89028-9

Identifiers

DOI

1 reference

21 September 2017

1 reference

PubMed ID

7732592