Hereditary elliptocytosis with a spectrin molecular defect in a white patient.
According to recent works, hereditary elliptocytosis (HE) appears to be related in some instances, to a defective self-association of spectrin (type I HE). We report a new case of type I HE observed in a white patient. Study of limited tryptic digestion of a spectrin dimer showed modification of a peptide involved in the dimer self-association process.
D000328:Adult; D055598:Chemical Phenomena; D002621:Chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000097:blood*; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000302:isolation & purification; D011108:Polymers; D013049:Spectrin / Q000096:biosynthesis*; D014357:Trypsin / Q000494:pharmacology
D008565:Membrane Proteins; D011108:Polymers; D013049:Spectrin; D014357:Trypsin