A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia

Volumn 7, Issue 4, 2001, Pages 416-418

  Acquila, M ^a   Bottini, F ^a   Valetto, A ^a   Caprino, D ^a   Mori, P G ^a   Bicocchi, M P ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Carrier detection; Genetics; Haemophilia B; Molecular biology; Mutation analysis; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9 INHIBITOR; BLOOD CLOTTING INHIBITOR; DNA; UNCLASSIFIED DRUG; WATER;

ADULT; ARTICLE; CHILD; CHORION VILLUS SAMPLING; DIAGNOSTIC PROCEDURE; DISEASE CARRIER; DNA CONFORMATION; DNA DETERMINATION; EMOTIONAL STRESS; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COUNSELING; GESTATION PERIOD; HEMOPHILIA B; HUMAN; HUMAN TISSUE; MALE; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; QUALITY OF LIFE; SENSITIVITY AND SPECIFICITY; TIME;

FEMALE; HEMOPHILIA B; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0034924292     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2001.00514.x     Document Type: Article

References (8)

1. Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein
2. A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
3. How do carriers of haemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?
4. Registry of DNA polymorphisms within or close to the human factor VIII and factor IX genes
5. A rapid prenatal diagnosis of haemophilia A by DNA analysis on crude chorionic villus biopsy
6. An improved method for prenatal diagnosis of genetic disease by analysis of amplified DNA sequences
7. Twenty-four novel haemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample
8. Haplotype analysis of identical factor IX mutants using PCR