caa a22 4500 467983410 CHVBK 20180323112524.0 cr unu---uuuuu 170328e19900501xx s 000 0 eng 10.1007/BF00210812 doi (NATIONALLICENCE)springer-10.1007/BF00210812 Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification [Elektronische Daten] [Andrea Ballabio, Joel Ranier, Jeffrey Chamberlain, Massimo Zollo, C. Caskey] Summary: Deletions are the most common molecular defect in steroid sulfatase (STS) deficiency. We describe the application of multiplex DNA amplification, by polymerase chain reaction, for deletion screening in patients with STS deficiency (STS-PCR). Genomic DNA from 38 unrelated patients was amplified using two sets of primers, corresponding to the 5′ and the 3′ ends of the STS gene. The analysis of the amplified products was always consistent with the results obtained by Southern analysis. This method represents a sensitive fast non-radioactive test for detecting STS gene deletions. Springer-Verlag, 1990 Ballabio Andrea Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut Ranier Joel Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut Chamberlain Jeffrey Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut Zollo Massimo International Institute of Genetics and Biophysics, CNR, Via Marconi 10, Naples, Italy aut Caskey C. Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut Human Genetics Springer-Verlag 84/6(1990-05-01), 571-573 0340-6717 84:6<571 1990 84 439 https://doi.org/10.1007/BF00210812 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00210812 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ballabio Andrea Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Ranier Joel Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Chamberlain Jeffrey Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Zollo Massimo International Institute of Genetics and Biophysics, CNR, Via Marconi 10, Naples, Italy aut NATIONALLICENCE 700 1- Caskey C. Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, 77030, Houston, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/6(1990-05-01), 571-573 0340-6717 84:6<571 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer