caa a22 4500 467986193 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19901101xx s 000 0 eng 10.1007/BF00205174 doi (NATIONALLICENCE)springer-10.1007/BF00205174 Cloning of the breakpoints of a deletion associated with choroideremia [Elektronische Daten] [F. Cremers, F. Brunsmann, W. Berger, E. van Kerkhoff, T. van de Pol, B. Wieringa, I. Pawlowitzki, H. Ropers] Summary: In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA: this fragment carries the junction between both deletion endpoints ("junction fragment”). The distal portion of this fragment defines a new marker within, or just distal to the TCD gene. This marker has been employed to confirm the diagnosis in several affected family members, and to rule out carriership in a female at risk with conspicuous clinical signs. Springer-Verlag, 1990 Cremers F. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut Brunsmann F. Institut für Humangenetik der Universität, W-4400, Münster, Germany aut Berger W. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut van Kerkhoff E. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut van de Pol T. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut Wieringa B. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut Pawlowitzki I. Institut für Humangenetik der Universität, W-4400, Münster, Germany aut Ropers H. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut Human Genetics Springer-Verlag 86/1(1990-11-01), 61-64 0340-6717 86:1<61 1990 86 439 https://doi.org/10.1007/BF00205174 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00205174 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Cremers F. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Brunsmann F. Institut für Humangenetik der Universität, W-4400, Münster, Germany aut NATIONALLICENCE 700 1- Berger W. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van Kerkhoff E. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van de Pol T. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Wieringa B. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- Pawlowitzki I. Institut für Humangenetik der Universität, W-4400, Münster, Germany aut NATIONALLICENCE 700 1- Ropers H. Department of Human Genetics, University Hospital, University of Nijmegen, P.O.Box 9101, NL-6500, HB Nijmegen, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 86/1(1990-11-01), 61-64 0340-6717 86:1<61 1990 86 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer