(Q40584423)

English

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

scientific article published on August 1990

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scholarly article

1 reference

Europe PubMed Central

21 September 2017

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene (English)

1 reference

Europe PubMed Central

21 September 2017

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0 references

author name string

D D Koeberl

1

1 reference

Europe PubMed Central

21 September 2017

C D Bottema

2

1 reference

Europe PubMed Central

21 September 2017

R P Ketterling

3

1 reference

Europe PubMed Central

21 September 2017

P J Bridge

4

1 reference

Europe PubMed Central

21 September 2017

D P Lillicrap

5

1 reference

Europe PubMed Central

21 September 2017

S S Sommer

6

1 reference

Europe PubMed Central

21 September 2017

language of work or name

0 references

publication date

1 August 1990

1 reference

Europe PubMed Central

21 September 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

21 September 2017

47

1 reference

Europe PubMed Central

21 September 2017

202-217

1 reference

Europe PubMed Central

21 September 2017

2

1 reference

Europe PubMed Central

21 September 2017

Segregation analysis of hemophilia A and B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Isolation and characterization of a cDNA coding for human factor IX

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1 reference

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22 September 2017

Blood coagulation factor X mRNA encodes a single polypeptide chain containing a prepro leader sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

The gene structure of human anti-haemophilic factor IX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 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=1683712

22 September 2017

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Cloning and sequencing of liver cDNA coding for bovine protein C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

DNA polymorphism and molecular pathology of the human globin gene clusters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Characterization of a cDNA coding for human factor VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 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=1683712

22 September 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Spectra of spontaneous mutations in Escherichia coli strains defective in mismatch correction: the nature of in vivo DNA replication errors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

The molecular basis of blood coagulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

The molecular basis of hemophilia A in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 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=1683712

22 September 2017

The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Molecular pathology of haemophilia B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 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=1683712

22 September 2017

The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Dystrophin. The gene and its product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Description and validation of a method for simultaneous estimation of effective population size and mutation rate from human population data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

22 September 2017

Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

25 September 2017

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

The Pennsylvania hemophilia program 1973-1978.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

The size distributions of proteins, mRNA, and nuclear RNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Covalent structure of bovine trypsinogen. The position of the remaining amides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Classification of aminotransferase (C gene) mutants in the histidine operon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Life expectancy of Swedish haemophiliacs, 1831-1980.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Genetic defect responsible for the dysfunctional protein: factor IXLong Beach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Genomic amplification with transcript sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Blood clotting factor IX Niigata: substitution of alanine-390 by valine 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=1683712

17 June 2018

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Mechanisms of spontaneous mutagenesis: an analysis of the spectrum of spontaneous mutation in the Escherichia coli lacI gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Molecular cloning of a cDNA encoding canine factor IX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

17 June 2018

Current status of Swedish hemophiliacs. I. A demographic survey.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

20 August 2018

Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683712

20 August 2018

A new trisaccharide sugar chain linked to a serine residue in bovine blood coagulation factors VII and IX

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parameters affecting the yield of DNA from human blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous mutation in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Higher frequencies of transitions among point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activation of human factor VII by activated factors IX and X

1 reference

https://pubmed.ncbi.nlm.nih.gov/2198809

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

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