(Q40843313)

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Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

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Europe PubMed Central

PubMed publication ID

24 September 2017

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

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coagulation factor IX

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1 reference

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inferred from title

author name string

O Knobloch

1

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

B Zoll

2

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

K Zerres

3

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

H H Brackmann

4

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

K Olek

5

1 reference

Europe PubMed Central

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24 September 2017

M Ludwig

6

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

publication date

1 August 1993

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

92

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Europe PubMed Central

PubMed publication ID

24 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

40-48

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation processes in the formation of hemoglobin variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental origin of factor IX gene mutations, and their distribution in the gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

"Founder" effect in different families with haemophilia B mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Why does the human factor IX gene have a G + C content of 40%?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of haemophilia B using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of hemophilia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of the deletion-insertion polymorphism of the factor IX gene by analysis of amplified DNA sequences (PCR).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene structure of human anti-haemophilic factor IX.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited

1 reference

https://pubmed.ncbi.nlm.nih.gov/8365725

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00216143

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

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