(Q57263914)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635460%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

title

The mutational demography of protein C deficiency (English)

1 reference

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22 October 2019

0 references

1 reference

3

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22 October 2019

author name string

M Krawczak

series ordinal

1

1 reference

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22 October 2019

P H Reitsma

series ordinal

2

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22 October 2019

publication date

1 August 1995

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22 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635460%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

96

1 reference

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22 October 2019

issue

2

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22 October 2019

page(s)

142-146

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https://scigraph.springernature.com/pub.10.1007/bf00207369

22 October 2019

exact match

0 references

cites work

Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

1 reference

12 December 2020

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

1 reference

12 December 2020

Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months

1 reference

12 December 2020

Mortality in hereditary antithrombin-III deficiency--1830 to 1989.

1 reference

12 December 2020

1 reference

12 December 2020

Prevalence of protein C deficiency in the healthy population

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Hereditary protein C deficiency

1 reference

12 December 2020

Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect

1 reference

12 December 2020

Evolution and organization of the human protein C gene

1 reference

12 December 2020

Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis

1 reference

12 December 2020

Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH

1 reference

12 December 2020

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection

1 reference

12 December 2020

Absence of thrombosis in subjects with heterozygous protein C deficiency

1 reference

12 December 2020

The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis

1 reference

12 December 2020

The cystic fibrosis heterozygote — Advantage in surviving cholera?

1 reference

12 December 2020

Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles

1 reference

12 December 2020

Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein

1 reference

12 December 2020

1 reference

12 December 2020

The nucleotide sequence of the gene for human protein C

1 reference

12 December 2020

Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis

1 reference

12 December 2020

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

1 reference

12 December 2020

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00207369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7635460%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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