Article
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
Blood - 1 Jul 1994
Parquet N, Devaux I, Boulanger L, Galand C, Boivin P, Lecomte M C, Dhermy D, Garbarz M
Abstract excerpt
Six individuals with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP) from three unrelated families were evaluated. Defects in the ability of spectrin (Sp) to undergo self-association were present, and associated with increased recovery of the Sp alpha I 74-kD fragment after limited tryptic digestion (Sp alpha I/74 variant). Because mutations associated with the Sp alpha I/74 variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.