(Q46639700)

23 December 2017

title

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools (English)

1 reference

23 December 2017

0 references

Rebecca E Saunders

1

1 reference

23 December 2017

Niamh M O'Connell

2

1 reference

23 December 2017

Christine A Lee

3

1 reference

23 December 2017

David J Perry

4

1 reference

23 December 2017

Stephen J Perkins

5

1 reference

23 December 2017

publication date

1 September 2005

1 reference

23 December 2017

published in

Human Mutation

1 reference

23 December 2017

volume

26

1 reference

23 December 2017

issue

3

1 reference

23 December 2017

page(s)

192-198

1 reference

23 December 2017

Crystal structures of the FXIa catalytic domain in complex with ecotin mutants reveal substrate-like interactions

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

Identification of a novel mutation in a non-Jewish factor XI deficient kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Organization of the gene for human factor XI.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor XI deficiency in Ashkenazi Jews in Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Two factor XI mutations in a Chinese family with factor XI deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Thrombin-mediated feedback activation of factor XI on the activated platelet surface is preferred over contact activation by factor XIIa or factor XIa.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Dinucleotide repeat polymorphism in the human coagulation factor XI gene, intron B (F11), detected using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

RFLP for intron E of factor XI gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor XI apple domains and protein dimerization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Severe factor XI deficiency caused by compound heterozygosity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Noncovalent interactions of the Apple 4 domain that mediate coagulation factor XI homodimerization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor XI activation in a revised model of blood coagulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Identification of two novel mutations in non-Jewish factor XI deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Apple four in human blood coagulation factor XI mediates dimer formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Heterozygous factor XI deficiency associated with three novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

A novel mutation that leads to a congenital factor XI deficiency in a Japanese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Compound heterozygosity for two novel mutations in a severe factor XI deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor IX activation by factor XIa proceeds without release of a free intermediate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20214

7 January 2021

Identifiers

DOI

10.1002/HUMU.20214

1 reference

23 December 2017

1 reference

23 December 2017