(Q35245535)

7 August 2017

title

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

1 reference

7 August 2017

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Youssoufian H

1

1 reference

7 August 2017

Antonarakis SE

2

1 reference

7 August 2017

Bell W

3

1 reference

7 August 2017

Griffin AM

4

1 reference

7 August 2017

Kazazian HH Jr

5

1 reference

7 August 2017

language of work or name

English

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publication date

1 May 1988

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

42

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7 August 2017

issue

5

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7 August 2017

page(s)

718-725

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The use of synthetic oligonucleotides as hybridization probes. II. Hybridization of oligonucleotides of mixed sequence to rabbit β-globin DNA

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Molecular cloning of a cDNA encoding human antihaemophilic factor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Structure of human factor VIII

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Characterization of the human factor VIII gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

DNA methylation and the frequency of CpG in animal DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

A clinically useful DNA probe closely linked to haemophilia A

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Characterization of five partial deletions of the factor VIII gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Molecular genetics of hemophilia A in man (factor VIII deficiency).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Molecular basis of base substitution hotspots in Escherichia coli

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Globin mRNA Sequences: Analysis of Base Pairing and Evolutionary Implications

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Immunoradiometric measurement of the factor VIII procoagulant antigen

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Expression of active human factor VIII from recombinant DNA clones

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715175

Letter: A more uniform measurement of factor VIII inhibitors

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2833855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2833855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2833855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1715175

1 reference

7 August 2017

1 reference