Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Lisbeth Birk Møller, Jens Thostrup Bukrinsky, Anne Mølgaard, Marianne Paulsen, Connie Lund, Zeynep Tümer, Sine Larsen, Nina Horn

41 Citations (Scopus)
Original languageEnglish
JournalHuman Mutation
Volume26
Pages (from-to)84-93
ISSN1059-7794
Publication statusPublished - 2005

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