Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

Journal of Gene Medicine

Volumn 4, Issue 4, 2002, Pages 390-396

  Porto, Fernanda B O ^a   Perrault, Isabelle ^b   Hicks, David ^a   Rozet, Jean Michel ^b   Hanoteau, Noëlle ^a   Hanein, Sylvain ^b   Kaplan, Josseline ^b   Sahel, José Alain ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b INSERM   (France)

Author keywords

Disease mutation; Histopathology; Immunohistochemistry; Photoreceptors; Retinal degeneration

Indexed keywords

COLLAGEN FIBRIL; LIPID; VISUAL PIGMENT; OPSIN;

ARTICLE; BRUCH MEMBRANE; CELL LOSS; CELL MUTANT; CELL ULTRASTRUCTURE; CELL VACUOLE; CHOROID; COMPARATIVE STUDY; CONTROLLED STUDY; EMBRYO; EYE DISEASE; FETUS; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LEBER CONGENITAL AMAUROSIS; PHOTORECEPTOR; PHOTOTRANSDUCTION; PIGMENT EPITHELIUM; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA CELL; RETINA DEGENERATION; SYNAPTIC MEMBRANE; VASCULAR DISEASE; FEMALE; FETUS DEATH; GENETIC LINKAGE; GENETICS; IMMUNOLOGY; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; PATHOLOGY; PEDIGREE; RETINA; RETINA CONE;

ABORTED FETUS; CONES (RETINA); FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LOD SCORE; MALE; OPSIN; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; RETINA;

EID: 0036632603     PISSN: 1099498X     EISSN: None     Source Type: Journal    
DOI: 10.1002/jgm.278     Document Type: Article

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