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

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

Department of Chemistry

Research output: Contribution to journal › Journal article › Research › peer-review

46 Citations (Scopus)

Original language	English
Journal	Human Mutation
Volume	26
Pages (from-to)	84-93
ISSN	1059-7794
Publication status	Published - 2005

Cite this

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.

In: Human Mutation, Vol. 26, 2005, p. 84-93.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Møller, Lisbeth Birk

AU - Bukrinsky, Jens Thostrup

AU - Mølgaard, Anne

AU - Paulsen, Marianne

AU - Lund, Connie

AU - Tümer, Zeynep

AU - Larsen, Sine

AU - Horn, Nina

PY - 2005

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M3 - Journal article

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SP - 84

EP - 93

JO - Human Mutation

JF - Human Mutation

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