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A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.

Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of inheritance. Whereas the self-association of spectrin heterodimers to tetramers is defective in a subpopulation of HE pa...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Invest
Egile Nagusiak: Lawler, J, Liu, S C, Palek, J, Prchal, J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 1984
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC437080/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6725555/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI111376
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