Article
Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).
Blood - 1 Aug 2000
Valentin C, Pissard S, Martin J, Héron D, Labrune P, Livet M O, Mayer M, Gelbart T, Schneider A, Max-Audit I, Cohen-Solal M
Abstract excerpt
Three French families with triose phosphate isomerase (TPI) deficiency were studied, and 2 new mutations giving rise to null alleles were observed: a frameshift mutation with deletion of the 86-87 TG dinucleotide in codon 29 (TPI Alfortville) and a T-->A transversion in nucleotide 2 of the initiation codon (TPI Paris). The first mutation occurred in compound heterozygosity with the frequent E105D mutation. The...
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