Molecular etiology of factor VIII deficiency in hemophilia A. (Q34309231)

1 August 2017

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title

Molecular etiology of factor VIII deficiency in hemophilia A. (English)

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1 August 2017

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Coagulation factor VIII

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hemophilia A

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author

Stilianos Antonarakis

series ordinal

1

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1 August 2017

Kazazian HH

2

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1 August 2017

Tuddenham EG

series ordinal

3

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1 August 2017

publication date

1 January 1995

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1 August 2017

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1 August 2017

volume

5

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1 August 2017

issue

1

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1 August 2017

page(s)

1-22

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LINE-1: a mammalian transposable element

1 August 2017

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Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor

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A HindIII RFLP and a gene lesion in the coagulation factor VIII gene

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A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.

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A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene

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Somatic origin of inherited haemophilia A.

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The CpG dinucleotide and human genetic disease

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Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.

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The skipping of constitutive exons in vivo induced by nonsense mutations

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Isolation of an active human transposable element

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Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

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Sequence of the murine factor VIII cDNA.

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A novel deletion of FVIII gene associated with variable levels of FVIII inhibitor

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Characterization of the human factor VIII gene

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Detection and sequence of mutations in the factor VIII gene of haemophiliacs

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Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

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7 January 2021

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

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Factor VIII gene rearrangements in patients with severe haemophilia A.

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The rate of spontaneous mutation of a human gene

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Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

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Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

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Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

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

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Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

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7 January 2021

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

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7 January 2021

Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin

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7 January 2021

Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats

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7 January 2021

"Copy and paste" transposable elements in the human genome

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Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

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7 January 2021

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

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

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7 January 2021

Complete cDNA sequence of human preceruloplasmin

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Factor VIII gene deletions in haemophilia A patients in Czechoslovakia

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7 January 2021

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

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7 January 2021

Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene

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7 January 2021

Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Immunoradiometric measurement of the factor VIII procoagulant antigen

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https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences

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7 January 2021

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

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7 January 2021

Sequence of the human factor VIII-associated gene is conserved in mouse

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7 January 2021

Evidence for a third transcript from the human factor VIII gene

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7 January 2021

Characterization of genetic defects of hemophilia A in patients of Chinese origin

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7 January 2021

Reverse Transcriptase Encoded by a Human Transposable Element

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7 January 2021

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.

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7 January 2021

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

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7 January 2021

A deletion involving intron 13 and exon 14 of factor VIII gene in a haemophiliac with anti-factor VIII antibody

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7 January 2021

Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody

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7 January 2021

The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

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7 January 2021

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

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7 January 2021

A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Factor VIII gene explains all cases of haemophilia A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Physical map of human Xq27-qter: localizing the region of the fragile X mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom

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https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Mutations in haemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Molecular cloning of a cDNA encoding human antihaemophilic factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Structure of human factor VIII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Expression of active human factor VIII from recombinant DNA clones

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Characterization of five partial deletions of the factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

MspI polymorphism in the 3' flanking region of the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Ultrastructural localization of factor VIII procoagulant antigen in human liver hepatocytes

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https://api.crossref.org/works/10.1002%2FHUMU.1380050102

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050102

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1 August 2017

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