caa a22 4500 467985626 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428302 doi (NATIONALLICENCE)springer-10.1007/BF02428302 Frequency of the cystic fibrosis ΔF508 mutation in a large sample of the French population [Elektronische Daten] [M. Vidaud, C. Ferec, O. Attree, O. Pascal, H. Guillermit, N. Ghanem, J. Martin, J. Moisan, J. Feingold, M. Goossens] Summary: We have determined the frequency of the cystic fibrosis (CF) ΔF508 mutation in a large sample of CF patients originating from different areas of France, including the greater Paris, Brittany, Alsace, Lorraine and Rhône-Alpes regions. A total of 422 CF chromosomes were studied, and the defect was found to account for 75% of the mutant alleles. In the course of the survey, a rare nucleotide sequence polymorphism leading to an isoleucine to valine substitution at position 506 of the CF transmembrane conductance regulator protein has been characterized in an unaffected individual. Our data enable the evaluation of the probabilities that a chromosome negative for the ΔF508 mutation carriers another CF defect. Springer-Verlag, 1990 Vidaud M. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut Ferec C. Centre Départemental de Transfusion Sanguine, 46, Rue Félix le Dantec, F-29200, Brest, France aut Attree O. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut Pascal O. INSERM U 211, Faculté de Médecine, 1, Rue G. Veil, F-44035, Nantes Cedex 1, France aut Guillermit H. Centre Départemental de Transfusion Sanguine, 46, Rue Félix le Dantec, F-29200, Brest, France aut Ghanem N. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut Martin J. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut Moisan J. INSERM U 211, Faculté de Médecine, 1, Rue G. Veil, F-44035, Nantes Cedex 1, France aut Feingold J. Institut Jacques Monod, IRBM Paris VII, 2, Place Jussieu, F-75221, Paris Cedex 05, France aut Goossens M. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut Human Genetics Springer-Verlag 85/4(1990-09-01), 434-435 0340-6717 85:4<434 1990 85 439 https://doi.org/10.1007/BF02428302 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428302 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vidaud M. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut NATIONALLICENCE 700 1- Ferec C. Centre Départemental de Transfusion Sanguine, 46, Rue Félix le Dantec, F-29200, Brest, France aut NATIONALLICENCE 700 1- Attree O. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut NATIONALLICENCE 700 1- Pascal O. INSERM U 211, Faculté de Médecine, 1, Rue G. Veil, F-44035, Nantes Cedex 1, France aut NATIONALLICENCE 700 1- Guillermit H. Centre Départemental de Transfusion Sanguine, 46, Rue Félix le Dantec, F-29200, Brest, France aut NATIONALLICENCE 700 1- Ghanem N. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut NATIONALLICENCE 700 1- Martin J. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut NATIONALLICENCE 700 1- Moisan J. INSERM U 211, Faculté de Médecine, 1, Rue G. Veil, F-44035, Nantes Cedex 1, France aut NATIONALLICENCE 700 1- Feingold J. Institut Jacques Monod, IRBM Paris VII, 2, Place Jussieu, F-75221, Paris Cedex 05, France aut NATIONALLICENCE 700 1- Goossens M. INSERM U 91, Hôpital Henri Mondor, 51, Avenue du Maréchal de Lattre-de-Tassigny, F-94010, Créteil, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 434-435 0340-6717 85:4<434 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer