(Q35245658)

7 August 2017

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

1 reference

7 August 2017

0 references

Coagulation factor VIII

0 references

hemophilia A

0 references

author name string

H Youssoufian

1

1 reference

7 August 2017

C Wong

2

1 reference

7 August 2017

S Aronis

3

1 reference

7 August 2017

H Platokoukis

4

1 reference

7 August 2017

H H Kazazian

5

1 reference

7 August 2017

S E Antonarakis

6

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 June 1988

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

42

1 reference

7 August 2017

6

1 reference

7 August 2017

867-871

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715196

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=1715196

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=1715196

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=1715196

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=1715196

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715196

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=1715196

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=1715196

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=1715196

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715196

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715196

Conformational preferences of amino acids in globular proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715196

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=1715196

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=1715196

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

27 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2835904

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1715196

1 reference

7 August 2017

1 reference