Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis (Q33597606)

28 July 2017

title

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis (English)

1 reference

28 July 2017

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28 October 2022

sex ratio

1 reference

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restriction fragment length polymorphism

28 October 2022

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28 October 2022

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28 October 2022

author

Hans C. van Houwelingen

3

object named as

J. C. van Houwelingen

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28 October 2022

author name string

Bröcker-Vriends AH

1

1 reference

28 July 2017

van Houwelingen JC

3

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28 July 2017

van Ommen GJ

5

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28 July 2017

van de Kamp JJ

6

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28 July 2017

Briët E

7

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28 July 2017

A. H. Bröcker-Vriends

1

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28 October 2022

F. R. Rosendaal

2

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28 October 2022

E. Bakker

4

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28 October 2022

G. J. van Ommen

5

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28 October 2022

J. J. van de Kamp

6

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28 October 2022

E. Briët

7

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28 October 2022

language of work or name

English

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publication date

1 October 1991

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full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1017053

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https://europepmc.org/articles/PMC1017053?pdf=render

28 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

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https://syndication.highwire.org/content/doi/10.1136/jmg.28.10.672

28 October 2022

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Crossref

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Journal of Medical Genetics

28 October 2022

published in

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28 July 2017

volume

28

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28 July 2017

issue

10

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28 July 2017

page(s)

672-680

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Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Segregation analysis of hemophilia A and B

14 July 2018

1 reference

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Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders

14 July 2018

1 reference

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A clinically useful DNA probe closely linked to haemophilia A

14 July 2018

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The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B

14 July 2018

1 reference

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Detection of the carrier state in hereditary coagulation disorders. I

14 July 2018

1 reference

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Equilibrium frequencies in X-linked recessive disease

14 July 2018

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Life expectancy of Swedish haemophiliacs, 1831-1980.

14 July 2018

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Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

14 July 2018

1 reference

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A somatic mosaic for haemophilia A detected at the DNA level.

14 July 2018

1 reference

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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

14 July 2018

1 reference

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Lineage promiscuity in hemopoietic differentiation and leukemia

14 July 2018

1 reference

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Characterization of five partial deletions of the factor VIII gene

14 July 2018

1 reference

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On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms

14 July 2018

1 reference

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Detection and sequence of mutations in the factor VIII gene of haemophiliacs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe

14 July 2018

1 reference

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Mortality and causes of death in Dutch haemophiliacs, 1973-86.

14 July 2018

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First trimester prenatal diagnosis of haemophilia A: two years' experience

14 July 2018

1 reference

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Maternal duplication associated with gene deletion in sporadic hemophilia

14 July 2018

1 reference

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RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Linked and intragenic probes for haemophilia A.

14 July 2018

1 reference

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Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene

14 July 2018

1 reference

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Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

14 July 2018

1 reference

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Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

14 July 2018

1 reference

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Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

14 July 2018

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Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

14 July 2018

1 reference

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Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A.

14 July 2018

1 reference

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Mosaicism and sporadic haemophilia: implications for carrier determination

14 July 2018

1 reference

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The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

14 July 2018

1 reference

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Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

14 July 2018

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Modern haemophilia treatment: medical improvements and quality of life

14 July 2018

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

14 July 2018

1 reference

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Molecular analysis of hemophilia A mutations in the Finnish population

14 July 2018

1 reference

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Somatic origin of inherited haemophilia A.

14 July 2018

1 reference

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Carrier detection in classical hemophilia

14 July 2018

1 reference

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The laboratory diagnosis of the carrier state for classic hemophilia

14 July 2018

1 reference

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Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Some Aspects of the Occurrence of New Mutations in Haemophilia

14 July 2018

1 reference

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The sporadic case of haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Ascertainment bias and power of procedures to estimate differences between male and female mutation rates.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017053

Genotype assignment of haemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms

30 October 2018

1 reference

12 December 2020

Methods for the detection of haemophilia carriers: a memorandum

1 reference

12 December 2020

Carrier studies in "Simplex families"

1 reference

12 December 2020

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1 reference

12 December 2020

The rate of spontaneous mutation of a human gene

3

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.672

The effect of the age of the father at conception on the mutations to hemphilia A

28 October 2022

27

1 reference

Crossref

https://api.crossref.org/works/10.1136/JMG.28.10.672

28 October 2022

Identifiers

1 reference

28 July 2017

1 reference

28 July 2017

1 reference