Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp resulting in increased amounts of a 74-kD peptide. The molecular basis of this disorder is heterogeneous...

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書誌詳細
出版年:	J Clin Invest
主要な著者:	Coetzer, T L, Sahr, K, Prchal, J, Blacklock, H, Peterson, L, Koler, R, Doyle, J, Manaster, J, Palek, J
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 1991
主題:	Research Article
オンライン･アクセス:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295451/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1679439/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115371
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Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

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