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Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules

In a Hungarian family with triosephosphate isomerase (TPI; d-glyceraldehyde-3-phosphate keto-isomerase, EC 5.3.1.1) deficiency, two germ-line identical, but phenotypically differing compound heterozygote brothers (one of them with neurological disorder) have been identified with the same very low (&...

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Bibliographische Detailangaben
Hauptverfasser: Orosz, F., Wágner, G., Liliom, K., Kovács, J., Baróti, K., Horányi, M., Farkas, T., Hollán, S., Ovádi, J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The National Academy of Sciences 2000
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC15510/
https://ncbi.nlm.nih.gov/pubmed/10655478
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