caa a22 4500 467986487 CHVBK 20180323112533.0 cr unu---uuuuu 170328e19901201xx s 000 0 eng 10.1007/BF00197713 doi (NATIONALLICENCE)springer-10.1007/BF00197713 The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32 [Elektronische Daten] [I. Kennerknecht, T. Suormala, G. Barbi, E. Baumgartner] Summary: The human gene encoding the α-polypeptide of propionyl-CoA carboxylase (PCC) has hitherto been localized to the distal half of the long arm of chromosome 13, segment 13q22→q34. We studied the enzyme activities of mitochondrial carboxylases in cell cultures obtained from patients with different deletions of chromosome 13. By setting the PCC activity in normal diploid cell cultures (control group) at 100%, cell cultures with trisomy 13 showed 150% activity. In contrast, one of four patients with partial monosomy 13 had an enzyme activity of only 50%. Thus, by comparative deletion mapping, combined with studies of the gene-dosage effect, we have been able to assign the PCCA gene locus to chromosome band 13q32. Springer-Verlag, 1990 Kennerknecht I. Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut Suormala T. Stoffwechselabteilung, Universitäts-Kinderklinik, Römergasse 8, CH-4005, Basel, Switzerland aut Barbi G. Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut Baumgartner E. Stoffwechselabteilung, Universitäts-Kinderklinik, Römergasse 8, CH-4005, Basel, Switzerland aut Human Genetics Springer-Verlag 86/2(1990-12-01), 238-240 0340-6717 86:2<238 1990 86 439 https://doi.org/10.1007/BF00197713 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00197713 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kennerknecht I. Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut NATIONALLICENCE 700 1- Suormala T. Stoffwechselabteilung, Universitäts-Kinderklinik, Römergasse 8, CH-4005, Basel, Switzerland aut NATIONALLICENCE 700 1- Barbi G. Abteilung Klinische Genetik der Universität, Frauenstrasse 29, W-7900, Ulm, Germany aut NATIONALLICENCE 700 1- Baumgartner E. Stoffwechselabteilung, Universitäts-Kinderklinik, Römergasse 8, CH-4005, Basel, Switzerland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/2(1990-12-01), 238-240 0340-6717 86:2<238 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer