Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. (Q30367118)

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title

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. (English)

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Z-P Guo

1

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L-H Yang

2

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X-Y Qin

3

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X-E Liu

4

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J-F Chen

5

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Y-F Zhang

6

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publication date

23 September 2014

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volume

20

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issue

6

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page(s)

859-865

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

21 June 2017

cites work

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21 January 2018

Haemophilias A and B.

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Guidelines for the management of hemophilia

21 January 2018

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Haemophilia care in China: achievements of a decade of World Federation of Hemophilia treatment centre twinning activities

21 January 2018

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Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations

21 January 2018

1 reference

Spectrum of factor IX gene mutations causing haemophilia B from India

21 January 2018

1 reference

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

21 January 2018

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Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

21 January 2018

1 reference

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

21 January 2018

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Antibody-probed conformational transitions in the protease domain of human factor IX upon calcium binding and zymogen activation: putative high-affinity Ca(2+)-binding site in the protease domain

21 January 2018

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Performance of secondary structure prediction methods on proteins containing structurally ambivalent sequence fragments

21 January 2018

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Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

21 January 2018

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Multiple substitutions at single site: interpreting the effect of Asn92 mutations in human coagulation factor IX.

21 January 2018

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An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

21 January 2018

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Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online

21 January 2018

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Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

21 January 2018

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Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX.

21 January 2018

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Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity

21 January 2018

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A meta-analysis of nonsense mutations causing human genetic disease.

21 January 2018

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Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

21 January 2018

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The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/HAE.12534

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21 June 2017

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