Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A (Q28117400)

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28 October 2019

title

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

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275087%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

main subject

Coagulation factor VIII

1 reference

GOA release 2020-03-11

blood coagulation

1 reference

GOA release 2020-03-11

1 reference

Stilianos Antonarakis

3

1 reference

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28 October 2019

author name string

Lakich D

1

1 reference

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28 October 2019

Kazazian HH Jr

2

1 reference

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28 October 2019

Gitschier J

4

1 reference

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28 October 2019

language of work or name

English

0 references

publication date

1 November 1993

2 references

4 January 2017

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28 October 2019

2 references

4 January 2017

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28 October 2019

volume

5

2 references

4 January 2017

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28 October 2019

issue

3

2 references

4 January 2017

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28 October 2019

page(s)

236-241

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1193-236

28 October 2019

exact match

0 references

cites work

Chromosomal Rearrangements and Protein Structure

1 reference

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

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Latent and replicating forms of Epstein-Barr virus DNA in lymphomas and lymphoproliferative diseases

21 January 2018

1 reference

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Characterization of the human factor VIII gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

A transcribed gene in an intron of the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Evidence for a third transcript from the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Hemoglobins Lepore and anti-Lepore

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

Major rearrangement in the human β-globin gene cluster

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

An electrophoretic karyotype for yeast

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-236

7 January 2021

https://api.crossref.org/works/10.1038%2FNG1193-236

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1193-236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8275087%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

2 references

4 January 2017