Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder of glycolysis characterized by multisystem disease and lethality in early childhood. Among seven unrelated Northern European kindreds with clinical TPI deficiency studied, a single missense mutation at codon 104 (GAG;Glu--
โฆ LIBER โฆ
New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family
โ Scribed by A. Repiso; J. L. Vives Corrons; T. Vulliamy; N. Killeen; M. Layton; J. Carreras; F. Climent
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 113 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0141-8955
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