(Q45868368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Severe haemophilia A in a female resulting from two de novo factor VIII mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

main subject

hemophilia

0 references

Coagulation factor VIII

0 references

hemophilia A

0 references

author name string

S Windsor

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

A Lyng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

S A Taylor

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

D Lillicrap

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

language of work or name

English

0 references

publication date

1 August 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Haematology

23 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

906-909

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

Discordance in a pair of identical twin carriers of factor IX deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

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/10.1111%2FJ.1365-2141.1995.TB05213.X

Hemophilia B in a 46,XX female probably caused by non-random X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1995.TB05213.X

10.1111/J.1365-2141.1995.TB05213.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7669670%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference