Article
Prenatal molecular diagnosis of Gaucher disease.
Prenatal diagnosis - 1 Dec 1995
Zimran A, Elstein D, Abrahamov A, Kuhl W, Brown K H, Beutler E
Abstract excerpt
Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to...
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