Article
Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.
Prenatal diagnosis - 1 Oct 1994
Romano V, Dianzani I, Ponzone A, Zammarchi E, Eisensmith R, Ceratto N, Bosco P, Indelicato A
Abstract excerpt
A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al., 1993) and a variable number of tandem repeats (Hind III-VNTR) flanked by two constant Hind III sites (Golstov et al., 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are...
Topics
- Alleles
- DNA, Satellite
- Electrophoresis, Polyacrylamide Gel
- Family Health
- Female
- Fetal Diseases
- Humans
- Introns
- Italy
- Male
- Pedigree
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis