(Q37363234)

19 August 2017

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping (English)

1 reference

19 August 2017

1 reference

2

U Seligsohn

1 reference

19 August 2017

W C Nichols

1

1 reference

19 August 2017

A Zivelin

3

1 reference

19 August 2017

V H Terry

4

1 reference

19 August 2017

N D Arnold

5

1 reference

19 August 2017

D R Siemieniak

6

1 reference

19 August 2017

R J Kaufman

7

1 reference

19 August 2017

D Ginsburg

8

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 February 1997

1 reference

Journal of Clinical Investigation

19 August 2017

1 reference

19 August 2017

99

1 reference

19 August 2017

4

1 reference

19 August 2017

596-601

1 reference

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

An STS-based map of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Evidence of normal functional levels of activated protein C inhibitor in combined Factor V/VIII deficiency disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Construction of multilocus genetic linkage maps in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Characterization of the human factor VIII gene.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Exodontia in combined factor V and factor VIII deficiency.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Structure of the gene for human coagulation factor V

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hetereditary transmission of this disorder

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Linkage disequilibrium as a gene-mapping tool.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Combined factor V and factor VIII deficiency among non-Ashkenazi Jews

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Studies on human protein C inhibitor in normal and Factor V/VIII deficient plasmas

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Combined congenital deficiency of factor V and factor VIII.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Combined Factor-V and Factor- VIII Deficiency: Report of Four Cases

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507840

Abnormal formation of the prothrombinase complex: factor V deficiency and related disorders

2 September 2018

1 reference

12 December 2020

Homozygosity mapping and Werner's syndrome

1 reference

12 December 2020

Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2

1 reference

12 December 2020

1 reference

12 December 2020

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

12 December 2020

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers]

1 reference

12 December 2020

Combined congenital deficiency of factor V and factor VIII

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI119201

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

9045860

1 reference