(Q45876762)

17 December 2017

title

Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity (English)

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17 December 2017

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Ljung R

1

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17 December 2017

Petrini P

series ordinal

2

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17 December 2017

Tengborn L

series ordinal

3

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17 December 2017

Sjörin E

series ordinal

4

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17 December 2017

language of work or name

English

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publication date

1 April 2001

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17 December 2017

British Journal of Haematology

published in

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17 December 2017

volume

113

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17 December 2017

page(s)

81-86

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17 December 2017

issue

1

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17 December 2017

A new MspI restriction fragment length polymorphism in the hemophilia B locus

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Haemophilia B: database of point mutations and short additions and deletions--eighth edition

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Gene mutations and inhibitor formation in patients with hemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

Polymorphism of normal factor IX detected by mouse monoclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02759.X

10.1046/J.1365-2141.2001.02759.X

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

PubMed ID

11328285

1 reference

17 December 2017