caa a22 4500 467984964 CHVBK 20180323112529.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00193579 doi (NATIONALLICENCE)springer-10.1007/BF00193579 Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families [Elektronische Daten] [Pascal Barbry, Brigitte Simon-Bouy, Marie-Geneviève Mattéi, Eric Le Guern, Bartolomé Jaume-Roig, Olivier Chassande, Axel Ullrich, Michel Lazdunski] Summary: The apical sodium channel is essential for sodium reabsorption by the kidney. Its activity is blocked by the diuretic amiloride. Using a human cDNA coding for the amiloride binding protein (ABP), the corresponding structural gene was mapped to human chromosome 7q34-q36 by in situ hybridization. This region flanks the region implicated in cystic fibrosis (7q32). Because an alteration of the amiloride sensitive sodium channel function has been suggested in cystic fibrosis, a possible link between the ABP gene and this disease was analyzed by restriction fragments length polymorphism (RFLP) analyses. From this study, it appears that the gene coding for ABP is not directly modified by mutations causing cystic fibrosis. Springer-Verlag, 1990 Barbry Pascal Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut Simon-Bouy Brigitte Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut Mattéi Marie-Geneviève Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, F-13385, Marseille, France aut Le Guern Eric Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut Jaume-Roig Bartolomé Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut Chassande Olivier Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut Ullrich Axel Max-Planck-Institut für Biochemie, W-8033, Martinsried bei München, Germany aut Lazdunski Michel Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut Human Genetics Springer-Verlag 85/6(1990-10-01), 587-589 0340-6717 85:6<587 1990 85 439 https://doi.org/10.1007/BF00193579 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193579 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Barbry Pascal Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut NATIONALLICENCE 700 1- Simon-Bouy Brigitte Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut NATIONALLICENCE 700 1- Mattéi Marie-Geneviève Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, F-13385, Marseille, France aut NATIONALLICENCE 700 1- Le Guern Eric Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut NATIONALLICENCE 700 1- Jaume-Roig Bartolomé Unité de Recherche de Génétique et Pathologie Foetale, U 73 INSERM, Château de Longchamp, F-75016, Paris, France aut NATIONALLICENCE 700 1- Chassande Olivier Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut NATIONALLICENCE 700 1- Ullrich Axel Max-Planck-Institut für Biochemie, W-8033, Martinsried bei München, Germany aut NATIONALLICENCE 700 1- Lazdunski Michel Institut de Pharmacologie Moléculaire et Cellulaire, UPR 411 CNRS, 660, Routes des Lucioles Sophia Antipolis, F-06560, Valbonne, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/6(1990-10-01), 587-589 0340-6717 85:6<587 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer