Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion (Q34210223)

31 July 2017

title

Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion (English)

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31 July 2017

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H H Watzke

1

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31 July 2017

A Wallmark

2

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31 July 2017

N Hamaguchi

3

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31 July 2017

P Giardina

4

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31 July 2017

D W Stafford

5

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31 July 2017

K A High

6

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31 July 2017

language of work or name

English

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publication date

1 November 1991

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Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

88

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31 July 2017

issue

5

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31 July 2017

page(s)

1685-1689

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Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Complete amino acid sequence of the light chain of human blood coagulation factor X: evidence for identification of residue 63 as beta-hydroxyaspartic acid

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Patterns of amino acids near signal-sequence cleavage sites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Characterization of a cDNA coding for human factor X

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

A new technique for the assay of infectivity of human adenovirus 5 DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Rapid and efficient site-specific mutagenesis without phenotypic selection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Isolation and characterization of human blood-coagulation factor X cDNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Molecular characterization of human factor XSan Antonio

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Characterization of an almost full-length cDNA coding for human blood coagulation factor X

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Maturation of Escherichia coli maltose-binding protein by signal peptidase I in vivo. Sequence requirements for efficient processing and demonstration of an alternate cleavage site

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Detection of specific sequences among DNA fragments separated by gel electrophoresis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

A general method for isolation of high molecular weight DNA from eukaryotes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Combined Functional and Immunochemical Analysis of Normal and Abnormal Human Factor X

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295703

Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343

5 July 2018

1 reference

12 December 2020

The gene for clotting factor 10 is mapped to 13q32----qter

1 reference

12 December 2020

Vitamin K-dependent carboxylase. Control of enzyme activity by the "propeptide" region of factor X

1 reference

12 December 2020

The Factor-X Defect: Recognition of Abnormal Forms of Factor X

1 reference

12 December 2020

1 reference

12 December 2020

Protein translocation across membranes

1 reference

12 December 2020

An inhibitory monoclonal antibody to factor X that blocks prothrombin activation but not prothrombinase enzyme assembly

1 reference

12 December 2020

An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene

1 reference

12 December 2020

Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg")

1 reference

12 December 2020

Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analyses

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI115484

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31 July 2017

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31 July 2017

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