Article
Prenatal diagnosis of triosephosphate isomerase deficiency.
Blood - 1 Jun 1996
Arya R, Lalloz M R, Nicolaides K H, Bellingham A J, Layton D M
Abstract excerpt
First-trimester prenatal diagnosis was undertaken by chorionic villus DNA analysis in two unrelated families with the inherited glycolytic disorder triosephosphate isomerase (TPI) deficiency. The propositus in each family was shown to be homozygous for a missense mutation (GAG --> GAC) at codon 104 of the TPI gene. In the first case the fetus was heterozygous for the codon 104 mutation and therefore clinically...
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