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

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Coagulation factor VIII

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Theophilus BD

1

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17 December 2017

Enayat MS

series ordinal

2

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17 December 2017

Williams MD

series ordinal

3

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17 December 2017

Hill FG

series ordinal

4

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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

issue

4

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17 December 2017

page(s)

381-391

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17 December 2017

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

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1 reference

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

21 January 2018

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Evidence for a third transcript from the human factor VIII gene

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

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

21 January 2018

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

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21 January 2018

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Molecular etiology of factor VIII deficiency in hemophilia A.

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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

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Characterization of five partial deletions of the factor VIII gene

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

21 January 2018

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

21 January 2018

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

21 January 2018

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Structure of human factor VIII

21 January 2018

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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