Single founder mutation (W380G) in type II protein C deficiency in Finland

Thrombosis and Haemostasis

Volumn 84, Issue 3, 2000, Pages 424-428

  Levo, A ^a   Kuismanen, K ^a   Holopainen, P ^a   Vahtera, E ^a   Rasi, V ^a   Krusius, T ^a   Partanen, J ^a  

^a FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

Finnish population; Genetic disorders; Mutation; PROC gene; Protein C; Thrombosis

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FINLAND; FOUNDER EFFECT; GENE MUTATION; GENEALOGY; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN C DEFICIENCY;

EID: 0033835460     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614039     Document Type: Article

References (18)

1. Protein C and protein S deficiencies
2. Protein C deficiency: From gene defects to disease
3. The human gene mutation database
4. The Finnish population structure. A genetic and genealogical study
5. Disease gene mapping in isolated human populations: The example of Finland
6. Messages from an isolate: Lessons from the Finnish gene pool
7. Fragile X founder effects and new mutations in Finland
8. Tracing past population migrations: Genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland
9. The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency Type I: Heterogeneity and founder effects
10. The nucleotide sequence of the gene for human protein C
11. Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene
12. Application of two neutral Msp I DNA polymorphisms in the analysis of hereditary protein C deficiency
13. Type I protein C deficiency in French Canadians: Evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels
14. Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency
15. Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study)
16. Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-strand conformational polymorphism analysis and a model building