The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.

Article

The exon 46-encoded sequence is essential for stability of human erythroid alpha-spectrin and heterodimer formation.

Blood - 15 Nov 1997

Wilmotte R, Harper S L, Ursitti J A, Maréchal J, Delaunay J, Speicher D W

Abstract excerpt

Human erythroid alpha-spectrin alleles responsible for hereditary elliptocytosis (alphaHE alleles) undergo increased incorporation into red blood cell membranes when the polymorphism alphaLELY (LELY: Low Expression LYon) occurs in trans. The alphaLELY polymorphism is characterized by a mutation i...

Topics

Alleles
Dimerization
Erythrocytes
Exons
Humans
RNA Splicing
Spectrin

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