Klinik und Genetik der gittrigen Hornhautdystrophie

Hammerstein, W; Scholz, W.

doi:10.1007/bf00419355

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…If male and female recombination fractions are estimated separately, the largest LOD score is 0.56 at 19 = 0.16 for males and at 0 = 0.17 for females. Hammerstein and Scholz [1975) reported a LOD score of 0.40 for linkage between haptoglobin and lattice corneal dystrophy at a recombination fraction of 0.2, which is a comparable estimate to the present study. The combined LOD score is then approximately 0.96, which is not significant but may hold promise for studies in other familes.…”

Section: Resultssupporting

confidence: 89%

Linkage analysis in lattice corneal dystrophy

et al. 1984

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Two kindreds of lattice corneal dystrophy (LCD) [McKusick, 1983, catalog No. 12220] were studied for linkage. Fifty-one relatives were examined clinically, and 27 affected and 24 normal persons were ascertained. Tight linkage could be excluded for 15 informative markers with LOD scores of less than -2.0. The largest positive LOD score was 0.56 at 0 = 0.17 for linkage between haptoglobin and LCD. Combined with a previous study, the combined LOD score is 0.96.

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Section: Resultssupporting

confidence: 89%

Linkage analysis in lattice corneal dystrophy

et al. 1984

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Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy

Kömpf¹,

Ritter²,

Lisch

et al. 1989

Graefe's Arch Clin Exp Ophthalmol

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Tight linkage was excluded for 8 markers in 37 blood relatives from 3 families, 29 of whom had granular corneal dystrophy (Groenouw I). Inconclusive results were obtained for linkage with four marker loci. The highest positive LOD score was 0.57 for linkage between glutamic pyruvic transaminase and granular corneal dystrophy. Tight linkage was excluded for glyoxalase-1 in eight individuals from one family with Schnyder's crystalline corneal dystrophy. Results were inconclusive for another six markers. Positive LOD scores were obtained for linkage with adenylate-kinase 1 and the ABO blood group, with values of 1.16 and 0.67, respectively. Among six blood relatives with Reis-Bücklers' corneal dystrophy, the highest positive LOD score was 1.17 for linkage with mitochondrial malic enzyme. For another six markers informative for linkage analysis, the results were inconsistent.

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The Group-Specific Component (Gc) System

Putnam¹

1977

The Plasma Proteins

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Klinik und Genetik der gittrigen Hornhautdystrophie

Cited by 3 publications

References 11 publications

Linkage analysis in lattice corneal dystrophy

Linkage analysis in lattice corneal dystrophy

Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy

The Group-Specific Component (Gc) System

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