Article
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Prenatal diagnosis - 1 Mar 1998
Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu L L
Abstract excerpt
Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly useful for carrier detection since the results of biochemical analyses are often ambiguous. The main drawback...
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