| Literature DB >> 1395087 |
K Forsman1, C Graff, S Nordström, K Johansson, E Westermark, E Lundgren, K H Gustavson, C Wadelius, G Holmgren.
Abstract
A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01 with DNA marker INT2 (also called FGF3). The retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.Entities:
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Year: 1992 PMID： 1395087 DOI： 10.1111/j.1399-0004.1992.tb03229.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438