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Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe.

作者信息

Reeders S T, Zerres K, Gal A, Hogenkamp T, Propping P, Schmidt W, Waldherr R, Dolata M M, Davies K E, Weatherall D J

出版信息

Lancet. 1986 Jul 5;2(8497):6-8. doi: 10.1016/s0140-6736(86)92557-2.

Abstract

A highly polymorphic DNA probe genetically linked to the locus of autosomal dominant polycystic kidney disease was used in linkage studies for prenatal diagnosis in a nine-week fetus at risk for the disease. The fetus was judged to have inherited the polycystic kidney disease mutation, and this was confirmed by microscopic examination of the fetal kidneys at necropsy.

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