A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 21-27

  Barbet, Fabienne ^a   Gerber, Sylvie ^a   Hakiki, Sélim ^a   Perrault, Isabelle ^a   Hanein, Sylvain ^a   Ducroq, Dominique ^a   Tanguy, Gaëlle ^a   Dufier, Jean Louis ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENE LIBRARY; GENES, RECESSIVE; GENOME; HOMOZYGOTE; HUMANS; MALE; MUTATION; OLIGONUCLEOTIDES; OPTIC ATROPHIES, HEREDITARY; VISION TESTS;

EID: 33747416772     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (7)

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2. J. François, Affections du nerf optique; in Masson (eds), L'hérédité en ophtalmologie. Paris, 581-606 (1958)
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4. H. U. Moller, Recessively inherited, simple optic atrophy-does it exist? (Letter), Ophthalmic Paedia Genet. 13:31-32 (1992)
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6. E. S. Lander, and D. Botstein, Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children, Science. 236:1567-70 (1987)
7. G. R. Fraser., and A. I. Friedmann, The Causes of Blindness in Childhood. A Study of 776 Children with Severe Visual Handicaps, Johns Hopkins Press 1 (1967)