(Q45855830)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

0 references

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Giannelli F

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Green PM

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

1 March 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

Journal of Thrombosis and Haemostasis

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

591-598

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

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

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

The DNA sequence of the human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Characterization of the gene (VBP1) and transcript for the von Hippel-Lindau binding protein and isolation of the highly conserved murine homologue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Isolation and characterization of a human novel RAB (RAB39B) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Microduplication and triplication of 22q11.2: a highly variable syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

More on: polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

Genomic structure of a novel chloride channel gene, CLIC2, in Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2006.01840.X

10.1111/J.1538-7836.2006.01840.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16460442%20AND%20SRC:MED&resulttype=core&format=json

release_7mck343uavajvossfubxeqx2v4

16 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7mck343uavajvossfubxeqx2v4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference