An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells.

Antzeko izenburuak

• Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability.
  nork: Tchernia, G, et al.
  Argitaratua: (1981)
• Restoration of normal membrane stability to unstable protein 4.1-deficient erythrocyte membranes by incorporation of purified protein 4.1.
  nork: Takakuwa, Y, et al.
  Argitaratua: (1986)
• Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells.
  nork: Conboy, J G, et al.
  Argitaratua: (1988)
• Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements.
  nork: Conboy, J, et al.
  Argitaratua: (1990)
• Differentiation-associated switches in protein 4.1 expression. Synthesis of multiple structural isoforms during normal human erythropoiesis.
  nork: Chasis, J A, et al.
  Argitaratua: (1993)