Characterization of five partial deletions of the factor VIII gene (Q34627862)

3 August 2017

Characterization of five partial deletions of the factor VIII gene (English)

1 reference

3 August 2017

Stilianos Antonarakis

2

1 reference

3 August 2017

Youssoufian H

1

1 reference

3 August 2017

Aronis S

3

1 reference

3 August 2017

Tsiftis G

4

1 reference

3 August 2017

Phillips DG

5

1 reference

3 August 2017

Kazazian HH Jr

6

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 June 1987

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

1 reference

3 August 2017

84

1 reference

3 August 2017

3772-3776

1 reference

3 August 2017

11

1 reference

Parental age and mutation

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Organization and expression of eucaryotic split genes coding for proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Molecular cloning of a cDNA encoding human antihaemophilic factor

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Structure of human factor VIII

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Characterization of the human factor VIII gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

The natural history of factor VIII inhibitors in patients with hemophilia A.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Cause of the 'inhibitor' phenotype in the haemophilias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Immunologic evidence that the antihemophilic factor (factor VIII)-like material in hemophilic plasma possesses a nonfunctional low molecular weight subcomponent

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Immunoradiometric measurement of the factor VIII procoagulant antigen

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Expression of active human factor VIII from recombinant DNA clones

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=304958

Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency)

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3035554

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.84.11.3772

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference