(Q45880184)

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Missense mutations and the magnitude of functional deficit: the example of factor IX.

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

Missense mutations and the magnitude of functional deficit: the example of factor IX. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

Cynthia Bottema

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

author name string

S S Sommer

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

E J Bowie

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

R P Ketterling

3

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

publication date

1 May 1992

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

89

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

295-297

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

The Pennsylvania hemophilia program 1973-1978.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

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/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemophilia B: database of point mutations and short additions and deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

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/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variants of hemophilia B: detection by means of a specific PTC inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

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/1601420

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/1601420

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/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assay of factor IX antigen using an enzyme immuno assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1601420

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00220543

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/1601420

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