Connie Lund
Kennedy Center(DK)
Publications by Year
Research Areas
Trace Elements in Health, RNA Research and Splicing, RNA regulation and disease, Drug Transport and Resistance Mechanisms, Chromosomal and Genetic Variations
Most-Cited Works
- → Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome(2000)127 cited
- Identification of point mutations in 41 unrelated patients affected with Menkes disease.(1997)
- → Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites(2006)72 cited
- → Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene(2000)69 cited
- Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.(1992)
- → Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A(2005)52 cited
- → Homozygosity for a gross partial gene deletion of the C‐terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations(2005)38 cited
- → X‐linked recessive Menkes disease: identification of partial gene deletions in affected males(2002)25 cited