Somatic mosaicism and compound heterozygosity in female hemophilia B

Blood

Volumn 96, Issue 4, 2000, Pages 1585-1587

  Costa, J M ^a   Vidaud, D ^a   Laurendeau, I ^a   Vidaud, M ^a   Fressinaud, E ^a   Moisan, J P ^a   David, A ^a   Meyer, D ^a   Lavergne, J M ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE SEQUENCE; GENETIC COUNSELING; HEMOPHILIA B; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION;

EID: 0034663294     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.4.1585.h8001585_1585_1587     Document Type: Article

References (23)

1. Structure, function and molecular defects of the factor IX
2. Biology of factor IX
3. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
4. Molecular pathology of hemophilia B
5. Discordance in a pair of identical twins carriers of factor IX deficiency
6. Nonrandom X chromosome DNA methylation patterns in hemophilic females
7. Moderate hemophilia B in female carrier caused by preferential inactivation of the parental X chromosome
8. Hemophilia B in a 46, XX female probably caused by non-random X inactivation
9. Heritability of X chromosome-inactivation phenotype in a large family
10. Gene action in the X-chromosome of the mouse
11. X-inactivation pattern in three cases of X/autosome translocation
12. Inheritance of skewed X chromosome inactivation
13. Severe hemophilia A in a female resulting from two de novo factor VIII mutations
14. Effect of anti-hemophilic factor IX on one stage clotting test
15. Detection of ras gene mutations in pancreatic juice and peripheral blood of patients with pancreatic adenocarcinoma
16. Expression of human chorionic gonadotropin b subunit in superficial and invasive bladder carcinomas
17. Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation
18. A promoter mutation in XIST gene in two unrelated families with skewed X-chromosome inactivation
19. Hemophilia B: A database of point mutations and short additions and deletions
20. The importance of genetic mosaicism in human disease
21. Somatic mosaicism: A common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neuro-fibromatosis
22. Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency)