Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. (Q34146295)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B (English)

1 reference

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2 November 2019

0 references

0 references

3

1 reference

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2 November 2019

author name string

P M Green

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

S Saad

series ordinal

2

1 reference

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2 November 2019

F Giannelli

series ordinal

4

1 reference

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2 November 2019

language of work or name

English

0 references

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

2 November 2019

published in

1 reference

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2 November 2019

volume

65

1 reference

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2 November 2019

page(s)

1572-1579

1 reference

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2 November 2019

issue

6

1 reference

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Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

2 November 2019

cites work

1 reference

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Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

28 July 2018

1 reference

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The molecular basis of haemophilia A and B.

28 July 2018

1 reference

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Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Efficient detection of point mutations on color-coded strands of target DNA.

28 July 2018

1 reference

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Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom

28 July 2018

1 reference

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The gene structure of human anti-haemophilic factor IX.

28 July 2018

1 reference

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Life expectancy of Swedish haemophiliacs, 1831-1980.

28 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Molecular pathology of haemophilia B

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Origin of mutation in sporadic cases of haemophilia-B

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Carcinogens preferentially bind at methylated CpG in the p53 mutational hot spots.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367

First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10577910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10577910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Haplotype analysis of identical factor IX mutants using PCR

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10577910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302651

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference