(Q45855091)

17 December 2017

title

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation (English)

1 reference

17 December 2017

main subject

hemophilia

0 references

Coagulation factor VIII

0 references

hemophilia A

0 references

author name string

Michael Citron

1

1 reference

17 December 2017

Lynn Godmilow

2

1 reference

17 December 2017

Tapan Ganguly

3

1 reference

17 December 2017

Arupa Ganguly

4

1 reference

17 December 2017

publication date

1 October 2002

1 reference

17 December 2017

published in

Human Mutation

1 reference

17 December 2017

volume

20

1 reference

17 December 2017

issue

4

1 reference

17 December 2017

page(s)

267-274

1 reference

17 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

An update on conformation sensitive gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Mosaicism and sporadic haemophilia: implications for carrier determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Laboratory methods for the genetic diagnosis of bleeding disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Cloned factor VIII and the molecular genetics of hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Somatic mosaicism in hemophilia A: a fairly common event.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Origin of mutation in sporadic cases of haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

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/10.1002%2FHUMU.10119

Structure of the C2 domain of human factor VIII at 1.5 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

Molecular etiology of factor VIII deficiency in hemophilia A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of a factor VIII peptide, residues 2315-2330, which neutralizes human factor VIII C2 inhibitor alloantibodies: requirement of Cys2326 and Glu2327 for maximum effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

inferred from DOI database lookup

7 January 2021

based on heuristic

Management of pediatric cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10119

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10119

1 reference

17 December 2017

PubMed ID

12325022

1 reference

17 December 2017