Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
Møller, Lisbeth Birk, Bukrinsky, Jens Thostrup, Mølgaard, Anne, Paulsen, Marianne, Lund, Connie, Tümer, Zeynep, Larsen, Sine, Horn, Nina
Published in Human mutation (01.08.2005)
Published in Human mutation (01.08.2005)
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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Journal Article
Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites
Paulsen, Marianne, Lund, Connie, Akram, Zarqa, Winther, Jakob R., Horn, Nina, Møller, Lisbeth Birk
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Journal Article
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations
Møller, Lisbeth Birk, Ott, Peter, Lund, Connie, Horn, Nina
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Identification of point mutations in 41 unrelated patients affected with Menkes disease
TÜMER, Z, LUND, C, TOLSHAVE, J, VURAL, B, TØNNESEN, T, HORN, N
Published in American journal of human genetics (1997)
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Published in American journal of human genetics (1997)
Journal Article
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome
Tommerup, N, Aagaard, L, Lund, C L, Boel, E, Baxendale, S, Bates, G P, Lehrach, H, Vissing, H
Published in Human molecular genetics (01.10.1993)
Published in Human molecular genetics (01.10.1993)
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Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome
PETERSEN, M. B, FRANTZEN, M, SAND, A, TOMMERUP, N, MIKKELSEN, M, ANTONARAKIS, S. E, WARREN, A. C, VAN BROECKHOVEN, C, CHAKRAVARTI, A, COX, T. K, LUND, C, OLSEN, B, POULSEN, H
Published in American journal of human genetics (01.09.1992)
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Published in American journal of human genetics (01.09.1992)
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