A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-11

AUTHORS

Josseline Kaplan, Sylvie Gerber, Dominique Larget-Piet, Jean-Michel Rozet, Hélène Dollfus, Jean-Louis Dufier, Sylvie Odent, Anne Postel-Vinay, Nicolas Janin, Marie-Louise Briard, Jean Frézal, Arnold Munnich

ABSTRACT

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition. More... »

PAGES

308-311

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1193-308

DOI

http://dx.doi.org/10.1038/ng1193-308

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029384233

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8275096


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