Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity (Q45881281)

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English	Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity (English)

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

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Green PM

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Montandon AJ

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Ljung R

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Bentley DR

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Nilsson IM

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Kling S

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Giannelli F

7

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

language of work or name

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publication date

1 July 1991

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

British Journal of Haematology

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

78

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

390-397

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Single base mismatches in DNA. Long- and short-range structure probed by analysis of axis trajectory and local chemical reactivity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

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

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Canine hemophilia B resulting from a point mutation with unusual consequences

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

The nucleotide sequence of the gene for human protein C

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Cause of the 'inhibitor' phenotype in the haemophilias

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Haemophilia B: database of point mutations and short additions and deletions

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Branch point selection in alternative splicing of tropomyosin pre-mRNAs

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Primate eta-globin DNA sequences and man's place among the great apes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Characterization of a cDNA coding for human factor X

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Specific and stable intron-factor interactions are established early during in vitro pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Deduced amino acid sequence of mouse blood-coagulation factor IX.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04453.X

21 January 2018

Identifiers

10.1111/J.1365-2141.1991.TB04453.X

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1873221

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