Article
Identification of the I507 deletion by site-directed mutagenesis.
American journal of medical genetics - 1 Jun 1994
Orozco L, Friedman K, Chávez M, Lezana J L, Villarreal M T, Carnevale A
Abstract excerpt
We describe a compound heterozygous delta-F508/delta-I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)-mediated site-directed mutagenesis showed the 219 bp fragment observed in delta-F508 homozygotes. The father showed a delta-F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a...
Topics
- Alleles
- Base Sequence
- Child
- Cystic Fibrosis
- Gene Deletion
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Pedigree
- Polymerase Chain Reaction