caa a22 4500 467984344 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208924 doi (NATIONALLICENCE)springer-10.1007/BF00208924 Cloning and sequence analysis of the human parathyroid hormone gene region [Elektronische Daten] [A. Reis, W. Hecht, R. Gröger, I. Böhm, D. Cooper, W. Lindenmaier, H. Mayer, J. Schmidtke] Summary: A region of 50 kb around the human PTH gene was cloned and mapped by restriction analysis. Sequence analysis was performed and 3270bp determined, completing the sequence of the gene. The nucleotide sequence was analysed with regard to homology between human, bovine and rat PTH genes, and various potential cis-acting regulatory elements were identified. The gene region lacks an obvious CpG island. The PTH gene region in patients suffering from (pseudo)-hypoparathyroidism was investigated by Southern blotting. No detectable alteration in the fragment patterns was observed. Results of segregation analysis in families with affected individuals was inconclusive. Springer-Verlag, 1990 Reis A. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Hecht W. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Gröger R. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Böhm I. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Cooper D. Thrombosis Research Unit, King's College School of Medicine and Dentistry, SE5 8RX, Denmark Hill, London, UK aut Lindenmaier W. Gesellschaft für Biotechnologische Forschung mbH, Mascheroder Weg 1, D-3300, Braunschweig, Germany aut Mayer H. Gesellschaft für Biotechnologische Forschung mbH, Mascheroder Weg 1, D-3300, Braunschweig, Germany aut Schmidtke J. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Human Genetics Springer-Verlag 84/2(1990-01-01), 119-124 0340-6717 84:2<119 1990 84 439 https://doi.org/10.1007/BF00208924 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208924 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Reis A. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Hecht W. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Gröger R. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Böhm I. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Cooper D. Thrombosis Research Unit, King's College School of Medicine and Dentistry, SE5 8RX, Denmark Hill, London, UK aut NATIONALLICENCE 700 1- Lindenmaier W. Gesellschaft für Biotechnologische Forschung mbH, Mascheroder Weg 1, D-3300, Braunschweig, Germany aut NATIONALLICENCE 700 1- Mayer H. Gesellschaft für Biotechnologische Forschung mbH, Mascheroder Weg 1, D-3300, Braunschweig, Germany aut NATIONALLICENCE 700 1- Schmidtke J. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 119-124 0340-6717 84:2<119 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer