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Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

Spectrin alpha-chain mutants associated with hereditary elliptocytosis are highly variable in their level of expression. It has been assumed that the degree of elliptocytosis can be increased when the spectrin alpha chain, encoded by the alpha gene in trans to the variant, is expressed at a low leve...

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Vydáno v:J Clin Invest
Hlavní autoři: Alloisio, N, Morlé, L, Maréchal, J, Roux, A F, Ducluzeau, M T, Guetarni, D, Pothier, B, Baklouti, F, Ghanem, A, Kastally, R
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296976/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2040699/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115250
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