A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. (Q45883473)

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English	A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

2372508

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

title

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B. (English)

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Europe PubMed Central

PubMed publication ID

2372508

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

main subject

hemophilia

0 references

hemophilia B

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author

Cynthia Bottema

series ordinal

1

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Europe PubMed Central

PubMed publication ID

2372508

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17 December 2017

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http://europepmc.org/abstract/MED/2372508

author name string

Koeberl DD

series ordinal

2

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Europe PubMed Central

PubMed publication ID

2372508

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17 December 2017

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http://europepmc.org/abstract/MED/2372508

Ketterling RP

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3

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PubMed publication ID

2372508

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http://europepmc.org/abstract/MED/2372508

Bowie EJ

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4

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2372508

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http://europepmc.org/abstract/MED/2372508

Taylor SA

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5

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PubMed publication ID

2372508

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http://europepmc.org/abstract/MED/2372508

Lillicrap D

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6

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PubMed publication ID

2372508

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http://europepmc.org/abstract/MED/2372508

Shapiro A

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7

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PubMed publication ID

2372508

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reference URL

http://europepmc.org/abstract/MED/2372508

Gilchrist G

series ordinal

8

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PubMed publication ID

2372508

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17 December 2017

reference URL

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Sommer SS

series ordinal

9

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PubMed publication ID

2372508

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language of work or name

English

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publication date

1 June 1990

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PubMed publication ID

2372508

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17 December 2017

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http://europepmc.org/abstract/MED/2372508

published in

British Journal of Haematology

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PubMed publication ID

2372508

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

volume

75

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PubMed publication ID

2372508

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

issue

2

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PubMed publication ID

2372508

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

page(s)

212-216

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PubMed publication ID

2372508

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17 December 2017

reference URL

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cites work

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Direct carrier testing in 14 families with haemophilia B.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

The Pennsylvania hemophilia program 1973-1978.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Characterization of an almost full-length cDNA coding for human blood coagulation factor X

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Characterization of a cDNA coding for human factor VII

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Assay of factor IX antigen using an enzyme immuno assay

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Genomic amplification with transcript sequencing

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

The factor IX BamHI polymorphism: T-to-G transversion at the nucleotide sequence -561. The BamHI/MSPI haplotypes in blacks and Caucasians

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1990.TB02651.X

retrieved

21 January 2018

Identifiers

DOI

10.1111/J.1365-2141.1990.TB02651.X

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2372508

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

PubMed publication ID

2372508

1 reference

stated in

Europe PubMed Central

PubMed publication ID

2372508

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/2372508

 

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