(Q41107837)

26 September 2017

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title

The molecular basis of haemophilia A and B. (English)

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26 September 2017

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Giannelli F

1

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26 September 2017

Green PM

series ordinal

2

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26 September 2017

publication date

1 June 1996

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Best Practice and Research: Clinical Haematology

26 September 2017

published in

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26 September 2017

volume

9

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26 September 2017

issue

2

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26 September 2017

page(s)

211-228

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

26 September 2017

cites work

1 reference

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7 January 2021

Molecular cloning of the gene for human anti-haemophilic factor IX.

1 reference

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7 January 2021

Recovery from Hemophilia B Leyden: An Androgen-Responsive Element in the Factor IX Promoter

1 reference

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7 January 2021

Isolation of an active human transposable element

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7 January 2021

cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene

1 reference

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7 January 2021

Cause of the 'inhibitor' phenotype in the haemophilias

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

1 reference

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7 January 2021

Characterization of the human factor VIII gene

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Factor VIII inhibitors

1 reference

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7 January 2021

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

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7 January 2021

A transcribed gene in an intron of the human factor VIII gene

1 reference

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7 January 2021

Evidence for a third transcript from the human factor VIII gene

1 reference

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7 January 2021

Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C.

1 reference

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7 January 2021

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

1 reference

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7 January 2021

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1 reference

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7 January 2021

Factor VIII gene explains all cases of haemophilia A

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII

1 reference

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7 January 2021

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

1 reference

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7 January 2021

Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

1 reference

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7 January 2021

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

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7 January 2021

The Ca2+ ion and membrane binding structure of the Gla domain of Ca-prothrombin fragment 1

1 reference

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7 January 2021

Molecular cloning of a cDNA encoding human antihaemophilic factor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

Structure of human factor VIII

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2896%2980059-X

7 January 2021

10.1016/S0950-3536(96)80059-X

Identifiers

DOI

1 reference

release_4e254sox4zhhhmqeluwv3lhjle

26 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4e254sox4zhhhmqeluwv3lhjle

24 November 2022

mapped directly with Wikidata item

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