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Autor:
Colette Valentin, Susan R. Hollán, Marget Horányi, Michel Cohen-Solal, Marianne Inselt-Kovács, Lynne E. Maquat
Publikováno v:
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie. 323(3)
We describe here a new stop mutation at triosephosphate isomerase (TPI) position 145 in a Hungarian family for which the first mutation (240 Phe → Leu) was published earlier. The entire genomic TPI locus (exons, introns and promoter) was sequenced