(Q40392004)

20 September 2017

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences (English)

1 reference

20 September 2017

0 references

Coagulation factor VIII

0 references

author name string

B Levinson

1

1 reference

20 September 2017

R Janco

2

1 reference

20 September 2017

J Phillips

3

1 reference

20 September 2017

J Gitschier

4

1 reference

20 September 2017

1 December 1987

1 reference

20 September 2017

Nucleic Acids Research

1 reference

20 September 2017

15

1 reference

20 September 2017

23

1 reference

20 September 2017

9797-9805

1 reference

Mutational specificity in bacteria

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

DNA methylation and the frequency of CpG in animal DNA.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Prediction of protein conformation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Characterization of five partial deletions of the factor VIII gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

A method to detect and characterize point mutations in transcribed genes: amplification and overexpression of the mutant c-Ki-ras allele in human tumor cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Molecular basis of base substitution hotspots in Escherichia coli

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

DNA sequencing with chain-terminating inhibitors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Deoxyribonucleic acid polymerase from the extreme thermophile Thermus aquaticus

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Characterization of the human factor VIII gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Distribution of factor VIII mRNA and antigen in human liver and other tissues

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Expression of active human factor VIII from recombinant DNA clones

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=306532

Mutagenic deamination of cytosine residues in DNA

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3122181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3122181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3122181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/15.23.9797

1 reference

20 September 2017

1 reference

20 September 2017

PubMed publication ID

3122181

1 reference