Article
Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations.
Human reproduction (Oxford, England) - 1 Sept 1994
Avner R, Laufer N, Safran A, Kerem B S, Friedmann A, Mitrani-Rosenbaum S
Abstract excerpt
W1282X (W) and delta F508 (delta) are the two most common mutations of the cystic fibrosis Israeli population. Patients who are homozygotes (WW and delta delta) as well as compound heterozygotes (W delta) present a severe phenotype of the disease. In the present study, we have developed a polymer...
Topics
- Base Sequence
- Blastomeres
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- Embryonic Development
- Female
- Heterozygote
- Homozygote
- Humans
- Israel
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis