(Q45881157)

17 December 2017

title

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. (English)

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17 December 2017

main subject

hemophilia

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Coagulation factor VIII

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5

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17 December 2017

author name string

D S Millar

1

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17 December 2017

B Zoll

2

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17 December 2017

U Martinowitz

3

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17 December 2017

V V Kakkar

4

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17 December 2017

publication date

1 September 1991

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17 December 2017

published in

Human Genetics

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17 December 2017

volume

87

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17 December 2017

issue

5

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17 December 2017

page(s)

607-612

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17 December 2017

Molecular pathology of haemophilia B

cites work

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12 December 2020

Molecular analysis of hemophilia A mutations in the Finnish population

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12 December 2020

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

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12 December 2020

Comparisons of one-stage and two-stage assays of Factor VIII:C

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12 December 2020

Eukaryotic dinucleotide preference rules and their implications for degenerate codon usage

1 reference

12 December 2020

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

1 reference

12 December 2020

Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders

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12 December 2020

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

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12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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12 December 2020

Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine

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12 December 2020

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

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12 December 2020

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

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12 December 2020

Characterization of the human factor VIII gene

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12 December 2020

Identification of the binding site for activated protein C on the light chain of factors V and VIII.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Structure of human factor VIII

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12 December 2020

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

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12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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12 December 2020

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

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12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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12 December 2020

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

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12 December 2020

Molecular genetics of hemophilia A in man (factor VIII deficiency).

1 reference

12 December 2020

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

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12 December 2020

The evolution of the alpha- and beta-globin gene clusters in human populations

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12 December 2020

Immunologic studies of factor VIII coagulant activity (VIII:C) 1. Assays based on a haemophilic and an acquired antibody to VIII:C.

1 reference

12 December 2020

Mutagenic deamination of cytosine residues in DNA

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12 December 2020

Factor VIII and haemophilia A.

1 reference

12 December 2020

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

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12 December 2020

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

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12 December 2020

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

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12 December 2020

The CpG dinucleotide and human genetic disease

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12 December 2020

Identifiers

DOI

10.1007/BF00209022

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17 December 2017

Dimensions Publication ID

1034652463

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17 December 2017