(Q57162230)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7984443%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition (English)

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29 October 2019

0 references

1 reference

E G Tuddenham

1

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29 October 2019

R Schwaab

2

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29 October 2019

J Seehafer

3

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29 October 2019

D S Millar

4

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29 October 2019

J Gitschier

5

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29 October 2019

M Higuchi

6

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29 October 2019

S Bidichandani

7

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29 October 2019

J M Connor

8

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29 October 2019

L W Hoyer

9

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29 October 2019

A Yoshioka

10

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29 October 2019

language of work or name

English

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publication date

1 November 1994

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29 October 2019

published in

Nucleic Acids Research

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29 October 2019

volume

22

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29 October 2019

issue

22

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29 October 2019

page(s)

4851-4868

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Intron 22 inversions and haemophilia

29 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

1 reference

12 December 2020

Abnormal factor VIII Hiroshima: defect in crucial proteolytic cleavage by thrombin at Arg1689 detected by a novel ELISA.

1 reference

12 December 2020

Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A.

1 reference

12 December 2020

Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene

1 reference

12 December 2020

A somatic mosaic for haemophilia A detected at the DNA level.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of factor VIII cleavage sites in hemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mosaicism and sporadic haemophilia: implications for carrier determination

1 reference

12 December 2020

Biopsy of human preimplantation embryos and sexing by DNA amplification.

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

1 reference

12 December 2020

Partial deletions of factor VIII gene as molecular diagnostic markers in haemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule

1 reference

12 December 2020

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

1 reference

12 December 2020

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria

1 reference

12 December 2020

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

1 reference

12 December 2020

CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site

1 reference

12 December 2020

Somatic origin of inherited 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

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of mutations in two families with sporadic hemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of an active human transposable element

1 reference

12 December 2020

Genetics and molecular biology of haemophilias A and B

1 reference

12 December 2020

The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemophilia A due to mutations that create new N-glycosylation sites

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of the human factor VIII gene

1 reference

12 December 2020

Molecular cloning of a cDNA encoding human antihaemophilic factor

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

Application of DNA-based diagnosis to patient care: the example of hemophilia A.

1 reference

12 December 2020

Characterization of five partial deletions of the factor VIII gene

1 reference

12 December 2020

Carrier detection of haemophilia A using DNA markers in families with an isolated affected male

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

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

1 reference

12 December 2020

Factor VIII gene deletions in haemophilia A patients in Czechoslovakia

1 reference

12 December 2020

A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases

1 reference

12 December 2020

GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin

1 reference

12 December 2020

Factor VIII gene explains all cases of haemophilia A

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for a third transcript from the human factor VIII gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in haemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Two novel mutations at 373 codon of FVIII gene detected by DGGE

1 reference

12 December 2020

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

1 reference

12 December 2020

Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A

1 reference

12 December 2020

How sensitive is PCR-SSCP?

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Factor VIII gene rearrangements in patients with severe haemophilia A.

1 reference

12 December 2020

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

1 reference

12 December 2020

Intron 22 inversions and haemophilia

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/22.22.4851

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7984443%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

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29 October 2019

PubMed publication ID

7984443

1 reference