(Q45862416)

17 December 2017

title

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. (English)

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17 December 2017

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8

Ulrike Nowak-Göttl

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Arseni Markoff

object named as

Arseni Markoff

2

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author name string

Nadja Bogdanova

1

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17 December 2017

Roswith Eisert

3

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17 December 2017

Cornelia Wermes

4

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17 December 2017

Hartmut Pollmann

5

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17 December 2017

Albena Todorova

6

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17 December 2017

Marcin Chlystun

7

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17 December 2017

Ulrike Nowak-Göttl

8

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17 December 2017

Jürgen Horst

9

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17 December 2017

publication date

1 January 2007

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17 December 2017

published in

Human Mutation

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17 December 2017

volume

28

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17 December 2017

issue

1

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17 December 2017

page(s)

54-60

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17 December 2017

Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

Molecular etiology of factor VIII deficiency in hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

The identification and classification of 41 novel mutations in the factor VIII gene (F8C).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Identification of seven novel mutations of F8C by DHPLC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Inactivation of human factor VIII by activated protein C. Cofactor activity of protein S and protective effect of von Willebrand factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

The effect of von Willebrand factor on activation of factor VIII by factor Xa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Structure of human factor VIII

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20403

7 January 2021

Identifiers

DOI

10.1002/HUMU.20403

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17 December 2017

1 reference

17 December 2017