(Q45885087)

17 December 2017

title

A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred (English)

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17 December 2017

main subject

hemophilia

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coagulation factor IX

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3

V Blanchette

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17 December 2017

author name string

S A Taylor

1

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17 December 2017

D P Lillicrap

2

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17 December 2017

A R Giles

4

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17 December 2017

J J Holden

5

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17 December 2017

B N White

6

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17 December 2017

publication date

1 July 1988

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17 December 2017

published in

Human Genetics

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17 December 2017

volume

79

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17 December 2017

issue

3

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17 December 2017

page(s)

273-276

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17 December 2017

Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom

cites work

1 reference

12 December 2020

The gene structure of human anti-haemophilic factor IX.

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

1 reference

12 December 2020

Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency)

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

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene deletion in an Italian haemophilia B subject

1 reference

12 December 2020

An intragenic deletion of the factor IX gene in a family with hemophilia B.

1 reference

12 December 2020

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

1 reference

12 December 2020

Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular genetics of hemophilia A and B in man. Factor VIII and factor IX deficiency.

1 reference

12 December 2020

Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene

1 reference

12 December 2020

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

12 December 2020

Localization of human factor FVIII inhibitor epitopes to two polypeptide fragments

1 reference

12 December 2020

Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients

1 reference

12 December 2020

A DNA marker closely linked to the factor IX (haemophilia B) gene

1 reference

12 December 2020

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00366250

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17 December 2017

Dimensions Publication ID

1024169307

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Fatcat ID

release_slo42gpzqzdr7l7yvdyblwl6wa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/slo42gpzqzdr7l7yvdyblwl6wa

24 November 2022

mapped directly with Wikidata item

1 reference

17 December 2017