caa a22 4500 467985650 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428281 doi (NATIONALLICENCE)springer-10.1007/BF02428281 The mutation ΔF508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis [Elektronische Daten] [D. Halley, H. Veeze, L. Sandkuyl, E. Wesby-van Swaay, N. van Damme, W. Deelen, J. Witte, M. Niermeijer] Summary: We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation ΔF508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for ΔF508 and the other patients. ΔF508 homozygotes tend to be identified as patients at neonatal or infantile age. The age at diagnosis of patients with at least one unknown allele, on the other hand, ranged between neonatal and young adult age. Springer-Verlag, 1990 Halley D. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut Veeze H. Department of Pediatrics, Subdivision Gastroenterology, Sophia Children's Hospital, P.O. Box 70029, NL-3000, LL Rotterdam, The Netherlands aut Sandkuyl L. Department of Pediatrics, Subdivision Gastroenterology, Sophia Children's Hospital, P.O. Box 70029, NL-3000, LL Rotterdam, The Netherlands aut Wesby-van Swaay E. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut van Damme N. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut Deelen W. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut Witte J. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut Niermeijer M. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut Human Genetics Springer-Verlag 85/4(1990-09-01), 407-408 0340-6717 85:4<407 1990 85 439 https://doi.org/10.1007/BF02428281 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428281 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Halley D. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 700 1- Veeze H. Department of Pediatrics, Subdivision Gastroenterology, Sophia Children's Hospital, P.O. Box 70029, NL-3000, LL Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Sandkuyl L. Department of Pediatrics, Subdivision Gastroenterology, Sophia Children's Hospital, P.O. Box 70029, NL-3000, LL Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Wesby-van Swaay E. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 700 1- van Damme N. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 700 1- Deelen W. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 700 1- Witte J. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 700 1- Niermeijer M. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000, The Netherlands aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 407-408 0340-6717 85:4<407 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer