Article
Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.
Proceedings of the National Academy of Sciences of the United States of America - 15 Feb 1991
Kuppuswamy M N, Hoffmann J W, Kasper C K, Spitzer S G, Groce S L, Bajaj S P
Abstract excerpt
In this report, we describe an approach to detect the presence of abnormal alleles in those genetic diseases in which frequency of occurrence of the same mutation is high (e.g., cystic fibrosis and sickle cell disease), and in others in which multiple mutations cause the disease and the sequence...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Exons
- Factor IX
- Female
- Genetic Carrier Screening
- Genotype
- Hemophilia A
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction