Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease 1 1Edited by J. Karn

This publication has 31 references indexed in Scilit:

• Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)
  Human Molecular Genetics, 1997
• LINEs and Alus — the polyA connection
  Nature Genetics, 1997
• The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints
  Human Genetics, 1997
• Molecular basis of α-thalassemia in Sicily
  Human Genetics, 1997
• A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia
  Human Genetics, 1996
• Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A₂
  British Journal of Haematology, 1992
• The 32·6 kb Indian δβ-thalassaemia deletion ends in a 3·4 kb L1 element downstream of the β-globin gene
  British Journal of Haematology, 1992
• Duplication of the gamma-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates.
  Proceedings of the National Academy of Sciences, 1991
• The 12.6 kilobase DNA deletion in Dutch β°-thalassaemia
  British Journal of Haematology, 1987
• Sequence analysis of a Kpnl family member near the 3′ end of human β-globin gene
  Nucleic Acids Research, 1985