Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families [2]

Haemophilia

Volumn 8, Issue 5, 2002, Pages 730-732

  Bicocchi, M P ^a   Pasino, M ^a   Bottini, F ^a   Lanza, T ^a   Mori, P G ^a   Acquila, M ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ASPARAGINE; BLOOD CLOTTING FACTOR 9; CYSTEINE; DNA; EPIDERMAL GROWTH FACTOR DERIVATIVE; GLYCINE; PHENYLALANINE;

AMINO ACID SUBSTITUTION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE CARRIER; FAMILIAL DISEASE; FEMALE; FETUS; GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; HAPLOTYPE; HEMOPHILIA B; HUMAN; LETTER; MALE; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY OF LIFE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; SEQUENCE ANALYSIS; X CHROMOSOME;

EID: 0036736432     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2002.00657_2.x     Document Type: Letter

References (8)

1. Molecular biology of hemophilia B
2. The molecular basis of hemophilia B
3. A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis
4. Haemophilia B mutations in Sweden: A population-based study of mutational heterogeneity
5. Germ line origins of de novo mutations in hemophilia B families
6. Haemophilia B database of point mutations and short additions and deletions
7. Haemophilia B Database of Point Mutations and Short Additions and Deletions
8. Mutation rates in humans. Overall and sex specific rates obtained from the population study of hemophilia B