(Q34646217)

3 August 2017

title

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

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3 August 2017

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Giannelli F

1

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3 August 2017

Green PM

2

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3 August 2017

Sommer SS

3

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3 August 2017

Poon M

4

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3 August 2017

Ludwig M

5

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3 August 2017

Schwaab R

6

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3 August 2017

Reitsma PH

7

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3 August 2017

Goossens M

8

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3 August 2017

Yoshioka A

9

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3 August 2017

Figueiredo MS

10

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3 August 2017

Brownlee GG

11

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3 August 2017

language of work or name

English

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publication date

1 January 1998

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3 August 2017

published in

Nucleic Acids Research

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3 August 2017

volume

26

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3 August 2017

issue

1

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3 August 2017

page(s)

265-268

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Haemophilia B: database of point mutations and short additions and deletions, 7th edition

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Comparative sequence analysis of mammalian factor IX promoters.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Key residues involved in calcium-binding motifs in EGF-like domains

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Molecular biology of the hemophilias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factor, HNF4, ARP1 and COUP/Ear3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147172

26 October 2018

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12 December 2020

Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169

1 reference

PubMed

12 December 2020

A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX

1 reference

PubMed

12 December 2020

First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1093/NAR/26.1.265

1 reference

journals/nar/GiannelliGSPLSRGYFB98

3 August 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

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3 August 2017

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