Recent human germ-line mutation: inferences from patients with hemophilia B. (Q40514889)

21 September 2017

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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

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1 April 1995

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11

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141-147

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How much do we know about spontaneous human mutation rates?

21 September 2017

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

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7 January 2021

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

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

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

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

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

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

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DNA inversions in phages and bacteria

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

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

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

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

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

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

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

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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

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

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

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

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Hypermutability and mismatch repair deficiency in RER+ tumor cells

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Triplet repeat mutations in human disease

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

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The mosaic genome of warm-blooded vertebrates

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Identifiers

DOI

1 reference

21 September 2017

1 reference

PubMed ID

7732592