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Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.

Forget, B G; Marchesi, V. T.; Linnenbach, A. J.; Agre, P; Marchesi, S. L.; Laughinghouse, K.; Scarpa, A.; Tobe, T.; Sahr, K. E. (American Society for Clinical Investigation, 1989-10)

We have determined the exon-intron organization and the nucleotide sequence of the exons and their flanking intronic DNA in cloned genomic DNA that encodes the first 526 amino acids of the alpha I domain of the human red ...

Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.

Gulati, G.; Hyun, B.; Agre, P.; Marchesi, V. T.; Speicher, D. W.; Letsinger, J. T.; Marchesi, S. L. (American Society for Clinical Investigation, 1987-07)

Two variant spectrins have been described in hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP). Both are characterized by increased susceptibility of the alpha I (N-terminal) 80-kD domain to mild tryptic digestion, ...