Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Tina Skjørringe; Per Amstrup Pedersen; Sidsel Salling Thorborg; Poul Nissen; Pontus Gourdon; Lisbeth Birk Møller

doi:10.1038/s41598-017-00618-6

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller^*

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

33 Citations (Scopus)

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Original language	English
Article number	757
Journal	Scientific Reports
Volume	7
Issue	1
Number of pages	18
ISSN	2045-2322
DOIs	https://doi.org/10.1038/s41598-017-00618-6
Publication status	Published - 7 Apr 2017

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10.1038/s41598-017-00618-6

41598_2017_Article_618Final published version, 4.56 MBLicence: CC BY

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title = "Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease",

author = "Tina Skj{\o}rringe and Pedersen, {Per Amstrup} and Thorborg, {Sidsel Salling} and Poul Nissen and Pontus Gourdon and M{\o}ller, {Lisbeth Birk}",

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. / Skjørringe, Tina; Pedersen, Per Amstrup; Thorborg, Sidsel Salling et al.
In: Scientific Reports, Vol. 7, No. 1, 757, 07.04.2017.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

AU - Skjørringe, Tina

AU - Pedersen, Per Amstrup

AU - Thorborg, Sidsel Salling

AU - Nissen, Poul

AU - Gourdon, Pontus

AU - Møller, Lisbeth Birk

PY - 2017/4/7

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DO - 10.1038/s41598-017-00618-6

M3 - Journal article

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SN - 2045-2322

VL - 7

JO - Scientific Reports

JF - Scientific Reports

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ER -

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

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