(Q37396272)

English

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

scientific article published on February 15, 1991

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scholarly article

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Europe PubMed Central

PMC publication ID

20 August 2017

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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coagulation factor IX

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cystic fibrosis

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author name string

M. N. Kuppuswamy

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

J. W. Hoffmann

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

C. K. Kasper

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

S. G. Spitzer

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

S. L. Groce

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

S. P. Bajaj

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

language of work or name

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publication date

1 February 1991

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Europe PubMed Central

PMC publication ID

20 August 2017

15 February 1991

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National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1671714

25 October 2022

full work available at URL

https://europepmc.org/articles/PMC50973

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Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

https://europepmc.org/articles/PMC50973?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671714

25 October 2022

https://pnas.org/doi/pdf/10.1073/pnas.88.4.1143

1 reference

10.1073/PNAS.88.4.1143

https://api.crossref.org/works/10.1073/PNAS.88.4.1143

25 October 2022

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

88

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1143-1147

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: a family study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

A DNA marker closely linked to the factor IX (haemophilia B) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Detection of specific DNA sequences by fluorescence amplification: a color complementation assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Molecular scanning methods of mutation detection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Improved diagnosis of Duchenne/Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

DNA diagnostics--molecular techniques and automation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

6 September 2017

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

14 September 2017

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

A Ligase-Mediated Gene Detection Technique

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Specificity of the nick-closing activity of bacteriophage T4 DNA ligase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Activation of ras oncogenes preceding the onset of neoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Factor IXHollywood: substitution of Pro55 by Ala in the first epidermal growth factor-like domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

"Founder" effect in different families with haemophilia B mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Hemophilia B: characterization of genetic variants and detection of carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

26 June 2018

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=50973

2 September 2018

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of single base substitutions in total genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of sickle cell anaemia and thalassaemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ribonuclease A cleavage combined with the polymerase chain reaction for detection of the Z mutation of the alpha-1-antitrypsin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR test for cystic fibrosis deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Sensitive New Prenatal Test for Sickle-Cell Anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671714

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.88.4.1143

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1991PNAS...88.1143K

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

0 references

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