A gene for Leber's congenital amaurosis maps to chromosome 17p |
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| Authors: | Camuzat, Agnes Dollfus, Helene Rozet, Jean-Michel Gerber, Sylvie Bonneau, Dominique Bonnemaison, Michele Briard, Marie-Louise Dufier, Jean-Louis Ghazi, Imad Leowski, Corinne Weissenbach, Jean Frezal, Jean Munnich, Arnold Kaplan, Josseline |
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| Affiliation: | Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de I'Enfant, INSERM U. 393, Hôpital des Enfants Malades 149 rue de Sèvres, 75743 Paris cedex 15 1Institut National des Jeunes Aveugles 75015 Paris 2Service d'Ophtalmologie, Hôpital Laënnec 75007 Paris 3Généthon 91002 Evry, France |
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| Abstract: | Leber's congenital amaurosis (LCA) is an autosomal recessivedisease responsible for congenital blindness. It is the mostearly and severe form of inherited retinopathy and accountsfor 5% of all inherited retinal dystrophies. Here we reportthe first mapping of a gene for LCA to the distal short armof chromosome 17 by linkage analysis in 15 multiplex families(Zmax = 5.14 at |
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