(Q35902341)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource (English)

1 reference

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21 February 2020

0 references

0 references

2

1 reference

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21 February 2020

4

J Michael Soucie

1 reference

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21 February 2020

5

W Craig Hooper

1 reference

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21 February 2020

author name string

Amanda B Payne

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Fiona M Kelly

series ordinal

3

1 reference

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21 February 2020

publication date

26 December 2012

1 reference

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21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

2

1 reference

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21 February 2020

page(s)

E2382-91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

21 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Functional roles of the factor VIII B domain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

dbSNP: the NCBI database of genetic variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

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=4519832

27 July 2018

Modern haemophilia care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Molecular genetic testing of hemophilia A.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519832

24 September 2018

Identifiers

DOI

10.1002/HUMU.22247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

PubMed publication ID

23280990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23280990%20AND%20SRC:MED&resulttype=core&format=json