(Q45878496)

17 December 2017

title

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. (English)

1 reference

17 December 2017

main subject

hemophilia

0 references

Coagulation factor VIII

0 references

0 references

0 references

Theophilus BD

1

1 reference

17 December 2017

Enayat MS

series ordinal

2

1 reference

17 December 2017

Williams MD

series ordinal

3

1 reference

17 December 2017

Hill FG

series ordinal

4

1 reference

17 December 2017

publication date

1 July 2001

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17 December 2017

published in

Haemophilia

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17 December 2017

volume

7

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17 December 2017

page(s)

381-391

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17 December 2017

issue

4

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17 December 2017

Distribution of factor VIII mRNA and antigen in human liver and other tissues

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Molecular pathology and immunology of factor VIII (hemophilia A and factor VIII inhibitors).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Characterization of the human factor VIII gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Evidence for a third transcript from the human factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Complete cDNA sequence of human preceruloplasmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.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/10.1046%2FJ.1365-2516.2001.00528.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/10.1046%2FJ.1365-2516.2001.00528.X

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Molecular etiology of factor VIII deficiency in hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Incidence of inhibitors in haemophilia A patients--a review of recent studies of recombinant and plasma-derived factor VIII concentrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Characterization of five partial deletions of the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Sequences in the coding region of clotting factor VIII act as dominant inhibitors of RNA accumulation and protein production.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

Structure of human factor VIII

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2516.2001.00528.X

10.1046/J.1365-2516.2001.00528.X

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

PubMed ID

11442643

1 reference

17 December 2017