Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

Những quyển sách tương tự

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  Bằng: Dhermy, D, et al.
  Được phát hành: (1982)
• Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
  Bằng: Tse, W T, et al.
  Được phát hành: (1990)
• Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.
  Bằng: Nicolas, G, et al.
  Được phát hành: (1998)
• Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.
  Bằng: Boulanger, L, et al.
  Được phát hành: (1992)
• Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis.
  Bằng: Lane, P A, et al.
  Được phát hành: (1987)