Article
Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).
Human genetics - 1 Jul 1990
Montandon A J, Green P M, Bentley D R, Ljung R, Nilsson I M, Giannelli F
Abstract excerpt
Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing s...
Topics
- Antigens
- Base Sequence
- Child, Preschool
- Codon
- Exons
- Factor IX
- Genetic Carrier Screening
- Hemophilia B
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Amplification Techniques
- Pedigree
- Polymerase Chain Reaction