The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene (Q45882695)

17 December 2017

title

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

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17 December 2017

main subject

hemophilia

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Coagulation factor VIII

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hemophilia A

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author name string

D S Millar

1

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17 December 2017

R A Steinbrecher

2

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K Wieland

3

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C B Grundy

4

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U Martinowitz

5

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M Krawczak

6

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B Zoll

7

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D Whitmore

8

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J Stephenson

9

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R S Mibashan

10

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17 December 2017

publication date

1 December 1990

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17 December 2017

published in

Human Genetics

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17 December 2017

volume

86

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issue

2

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17 December 2017

page(s)

219-227

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17 December 2017

https://scigraph.springernature.com/pub.10.1007/bf00197709

exact match

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cites work

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

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12 December 2020

Possible linkage between the major histocompatibility complex and the immune response to factor VIII in classic haemophilia

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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

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

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12 December 2020

Characterization of the human factor VIII gene.

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12 December 2020

Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene

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12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

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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

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

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12 December 2020

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

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12 December 2020

The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors

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12 December 2020

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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12 December 2020

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

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12 December 2020

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

1 reference

12 December 2020

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

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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

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

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12 December 2020

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

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12 December 2020

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences

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12 December 2020

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene

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Molecular analysis of hemophilia A mutations in the Finnish population

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Diagnosis of genetic disease using recombinant DNA. Second edition

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12 December 2020

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

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12 December 2020

Immunologic studies in asymptomatic hemophiliac patients

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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

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

1 reference

12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Factor VIII and haemophilia A.

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12 December 2020

Characterization of five partial deletions of the factor VIII gene

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12 December 2020

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

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12 December 2020

Incidence of inhibitors in patients with severe and moderate hemophilia A treated with factor VIII concentrates

1 reference

12 December 2020

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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12 December 2020

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

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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

Identifiers

DOI

10.1007/BF00197709

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17 December 2017

Dimensions Publication ID

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17 December 2017