Hemophilia B in a female caused by skewed inactivation of the normal X-chromosome

Haematologica

Volumn 85, Issue 10, 2000, Pages 1092-1095

  Espinos, C ^a   Lorenzo, J I ^a   Casana, P ^a   Martinez, F ^a   Aznar, J A ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Factor IX gene mutation; Hemophilia B; Skewed X inactivation; SSCP

Indexed keywords

BLOOD CLOTTING FACTOR 9; PROTHROMBIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; HEMOPHILIA B; HUMAN; MISSENSE MUTATION; SEQUENCE ANALYSIS; X CHROMOSOME INACTIVATION; GENE EXPRESSION REGULATION; GENETICS; INFANT; LUNG FIBROSIS; LUNG TRANSPLANTATION; MALE; PEDIGREE;

DOSAGE COMPENSATION, GENETIC; FEMALE; HEMOPHILIA B; HUMANS; INFANT; LUNG TRANSPLANTATION; MALE; PEDIGREE; PROTHROMBIN; PULMONARY FIBROSIS;

EID: 0033623188     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome
2. Haemophilia B in female twins caused by a point mutation in one factor IX gene and non-random inactivation patterns of the X-chromosomes
3. Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome
4. Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: A genetic influence on X chromosome inactivation?
5. The Malmo polymorphism of factor IX: Establishing the genotypes by rapid analysis of DNA
6. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers
7. Diagnosis of haemophilia B using the polymerase reaction
8. Nucleotide sequence of the gene for human factor IX (antihemophiliac factor B)
9. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
10. A de novo translocation 46,X,t (X;15) causing haemophilia B in a girl: A case report
11. Heritability of X chromosome inactivation phenotype in a large family
12. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
13. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation
14. Genetic control of X inactivation and processes leading to X-inactivation skewing