Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array (Q35717912)

9 August 2017

title

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array (English)

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blood coagulation disease

9 August 2017

main subject

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Hee-Jin Kim

1

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9 August 2017

Duk-Kyung Kim

2

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9 August 2017

Ki-Young Yoo

3

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9 August 2017

Chur-Woo You

4

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9 August 2017

Jong-Ha Yoo

5

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9 August 2017

Ki-O Lee

6

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9 August 2017

In-Ae Park

7

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9 August 2017

Hae-Sun Choung

8

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9 August 2017

Hee-Jung Kim

9

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9 August 2017

Min-Jung Song

10

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9 August 2017

Sun-Hee Kim

11

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9 August 2017

publication date

11 October 2011

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9 August 2017

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9 August 2017

volume

97

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9 August 2017

issue

2

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9 August 2017

page(s)

304-309

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Copy number and SNP arrays in clinical diagnostics

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Genotype analysis identifies the cause of the "royal disease"

27 July 2018

1 reference

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Copy number variation in human health, disease, and evolution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.

27 July 2018

1 reference

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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

27 July 2018

1 reference

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Completing the map of human genetic variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Genetic risk factors for inhibitors to factors VIII and IX.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Global variation in copy number in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Large-scale copy number polymorphism in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Incidence of inhibitors in haemophiliacs. A review of the literature.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Mutation analysis of factor VIII in Korean patients with severe hemophilia A.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

25 September 2018

1 reference

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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.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Factor VIII inhibitors in patients with hemophilia A: epidemiology of inhibitor development and induction of immune tolerance for factor VIII.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269493

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

25 September 2018

1 reference

12 December 2020

Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA)

1 reference

12 December 2020

Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA)

1 reference

12 December 2020

10.3324/HAEMATOL.2011.052324

Identifiers

DOI

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9 August 2017

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9 August 2017

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