Article
[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].
Klinische Monatsblatter fur Augenheilkunde - 1 May 1998
Lefèvre A, Hiroz C, Zografos L, Schorderet D F, Munier F L
Abstract excerpt
METHODS: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization. RESULTS: Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further...
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