Connie Lund

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund et al. · The American Journal of Human Genetics · 2000 · 127 citations · Full text

Classical Menkes Disease, Mendelian Disorder, Genetic Disorder +7

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Zeynep Tümer, Connie Lund, J Tolshave et al. · PubMed · 1997 · 100 citations

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

Marianne Paulsen, Connie Lund, Zarqa Akram et al. · The American Journal of Human Genetics · 2006 · 71 citations · Full text

Protein Function, Biochemistry, Protein Folding +10

Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene

Lisbeth Birk Møller, Carsten Tilbæk Petersen, Connie Lund et al. · Gene · 2000 · 69 citations

Genomic Organization, Functional Expression, Natural Sciences +13

Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

Michael B. Petersen, Merete Frantzen, Stylianos E. Antonarakis et al. · PubMed · 1992 · 56 citations