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 easily detected by the polymerase chain reaction (PCR) and gel electrophoresis. We report on the use of these two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.