(Q45880189)

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

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

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

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

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coagulation factor IX

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author name string

A J Montandon

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

P M Green

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

D R Bentley

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

R Ljung

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

S Kling

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

I M Nilsson

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

F Giannelli

7

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

publication date

1 May 1992

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

89

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

319-322

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

A probable sex difference in some mutation rates.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular pathology of haemophilia B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

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/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of mutation in sporadic cases of haemophilia-B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sporadic case of haemophilia A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphism of normal factor IX detected by mouse monoclonal antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation analysis of hemophilia A and B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

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/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some Aspects of the Occurrence of New Mutations in Haemophilia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00220550

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601423

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