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Your search keyword '"Krebsova, A"' showing total 4 results
Start Over Author "Krebsova, A" Publisher university of chicago press
4 results on '"Krebsova, A"'

2. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

Author

Hennies, Hans Christian, Kuster, Wolfgang, Wiebe, Victor, Krebsova, Alice, and Reis, Andre

Subjects
Ichthyosis -- Genetic aspects, Keratinization -- Genetic aspects, Biological sciences
Abstract

Correlation between genotype and phenotype has been examined in 14 families with autosomal recessive lamellar ichthyosis. The results show no consistent correlation between genetic and clinical classifications, suggesting that existing clinical criteria do not discriminate between the different molecular forms of the disease. Three loci have been associated with lamellar ichthyosis. In families with mutations on the TGM1 gene, seven different missense mutations and one splice mutation have been found.

Published
1998

4. Mutations in Klotho are associated with survival in diverse human populations

Author

Arking, D.E., Krebsova, A., Macek, M. Jr., Macek, M., Arking, A., Mian, I.S., Fried, L.P., Hamosh, A., Day, S., McIntosh, I., and Dietz, H.C.

Subjects
Genetic research -- Analysis, Human genetics -- Research, Atherosclerosis -- Genetic aspects, Osteoporosis -- Genetic aspects, Emphysema, Pulmonary -- Genetic aspects, Biological sciences
Published
2000

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