A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Nature Genetics

Volumn 22, Issue 2, 1999, Pages 199-202

  Stone, Edwin M ^a   Lotery, Andrew J ^a   Munier, Francis L ^b,c   Héon, Elise ^d,e   Piguet, Bertrand ^b   Guymer, Robyn H ⁱ   Vandenburgh, Kimberlie ^a   Cousin, Pascal ^b   Nishimura, Darryl ^a   Swiderski, Ruth E ^a   Silvestri, Giuliana ^f   Mackey, David A ⁱ   Hageman, Gregory S ^a   Bird, Alan C ^g   Sheffield, Val C ^a,h   Schordere, Daniel F ^c  

^a UNIVERSITY OF IOWA   (United States)

^b HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d UNIVERSITY OF TORONTO   (Canada)

^e Eye Research Institute of Canada   (Canada)

^f ROYAL VICTORIA HOSPITAL   (United Kingdom)

^g MOORFIELDS EYE HOSPITAL   (United Kingdom)

^h UNIVERSITY OF IOWA   (United States)

ⁱ Howard Hughes Medical Institute University of Iowa ^*

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN; SCLEROPROTEIN;

ARTICLE; CHROMOSOME 2P; CONTROLLED STUDY; DRUSEN; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MALFORMATION;

EID: 0033027071     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/9722     Document Type: Article

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