(Q45881773)

17 December 2017

title

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

1 reference

17 December 2017

0 references

0 references

2

1 reference

17 December 2017

author name string

D D Koeberl

1

1 reference

17 December 2017

G Sarkar

3

1 reference

17 December 2017

R P Ketterling

4

1 reference

17 December 2017

S H Chen

5

1 reference

17 December 2017

S S Sommer

6

1 reference

17 December 2017

publication date

1 April 1990

1 reference

17 December 2017

published in

Human Genetics

1 reference

17 December 2017

volume

84

1 reference

17 December 2017

page(s)

387-390

1 reference

17 December 2017

issue

5

1 reference

17 December 2017

https://scigraph.springernature.com/pub.10.1007/bf00195805

exact match

0 references

cites work

Molecular pathology of haemophilia B

1 reference

12 December 2020

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

12 December 2020

A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

RNA amplification with transcript sequencing (RAWTS).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.

1 reference

12 December 2020

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

1 reference

12 December 2020

The molecular basis of hemophilia A in man.

1 reference

12 December 2020

The history of haemophilia

1 reference

12 December 2020

Segregation analysis of hemophilia A and B

1 reference

12 December 2020

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

12 December 2020

Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B

1 reference

12 December 2020

Genomic amplification with transcript sequencing

1 reference

12 December 2020

The CpG dinucleotide and human genetic disease

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00195805

1 reference

17 December 2017

Dimensions Publication ID

0 references

1 reference

17 December 2017