Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.
作者信息
Hanein Sylvain, Perrault Isabelle, Gerber Sylvie, Tanguy Gaëlle, Rozet Jean-Michel, Kaplan Josseline
机构信息
Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.
出版信息
Adv Exp Med Biol. 2006;572:15-20. doi: 10.1007/0-387-32442-9_3.
PMID:17249549
Abstract
摘要
Zotero 插件