(Q45883473)

17 December 2017

title

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

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17 December 2017

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17 December 2017

author name string

Koeberl DD

2

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17 December 2017

Ketterling RP

3

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17 December 2017

Bowie EJ

4

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17 December 2017

Taylor SA

5

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17 December 2017

Lillicrap D

6

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17 December 2017

Shapiro A

7

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17 December 2017

Gilchrist G

8

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17 December 2017

Sommer SS

9

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17 December 2017

language of work or name

English

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publication date

1 June 1990

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17 December 2017

British Journal of Haematology

published in

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17 December 2017

volume

75

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17 December 2017

page(s)

212-216

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17 December 2017

issue

2

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17 December 2017

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

cites work

1 reference

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

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

21 January 2018

1 reference

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

Direct carrier testing in 14 families with haemophilia B.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

The Pennsylvania hemophilia program 1973-1978.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Characterization of a cDNA coding for human factor VII

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Assay of factor IX antigen using an enzyme immuno assay

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Genomic amplification with transcript sequencing

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

10.1111/J.1365-2141.1990.TB02651.X

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

PubMed ID

2372508

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17 December 2017