DOMINANT β THALASSAEMIA: MOLECULAR BASIS AND PATHOPHYSIOLOGY

This publication has 24 references indexed in Scilit:

• A NOVEL MUTATION (NONSENSE β 127) IN EXON 3 OF THE β GLOBIN GENE PRODUCES A VARIABLE THALASSAEMIC PHENOTYPE
  British Journal of Haematology, 1991
• Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype [letter]
  Blood, 1990
• Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)
  British Journal of Haematology, 1990
• A single nucleotide deletion in codon 123 of the β‐globin gene causes an inclusion body β‐thalassaemia trait: a novel elongated globin chain β^Makabe
  British Journal of Haematology, 1990
• One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain [letter]
  Blood, 1989
• Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114
  Blood, 1988
• Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.
  Journal of Clinical Investigation, 1979
• A new hemoglobin variant
  Biochimica et Biophysica Acta (BBA) - Protein Structure, 1978
• Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes.
  Proceedings of the National Academy of Sciences, 1975
• HÆMOGLOBIN TAK: A VARIANT WITH ADDITIONAL RESIDUES AT THE END OF THE β-CHAINS
  The Lancet, 1971