(Q45881773)

17 December 2017

title

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

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17 December 2017

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2

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author name string

D D Koeberl

1

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17 December 2017

G Sarkar

3

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17 December 2017

R P Ketterling

4

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17 December 2017

S H Chen

5

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17 December 2017

S S Sommer

6

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17 December 2017

publication date

1 April 1990

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17 December 2017

published in

Human Genetics

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17 December 2017

volume

84

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17 December 2017

issue

5

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17 December 2017

page(s)

387-390

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17 December 2017

Molecular pathology of haemophilia B

cites work

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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12 December 2020

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

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12 December 2020

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

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12 December 2020

RNA amplification with transcript sequencing (RAWTS).

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

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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.

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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.

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12 December 2020

The molecular basis of hemophilia A in man.

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12 December 2020

The history of haemophilia

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12 December 2020

Segregation analysis of hemophilia A and B

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genomic amplification with transcript sequencing

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12 December 2020

The CpG dinucleotide and human genetic disease

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12 December 2020

Identifiers

DOI

10.1007/BF00195805

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17 December 2017

Dimensions Publication ID

1032097819

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17 December 2017