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 Emanuel 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 Emanuel Gourdon, Lisbeth Birk Møller

12 Citations (Scopus)

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

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10.1038/s41598-017-00618-6Licence: CC BY

Skjørringe_2017_Characterization_of_ATP7AFinal published version, 4.82 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 Gourdon, {Pontus Emanuel} and M{\o}ller, {Lisbeth Birk}",

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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 Emanuel

AU - Møller, Lisbeth Birk

PY - 2017/12/1

Y1 - 2017/12/1

U2 - 10.1038/s41598-017-00618-6

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

M1 - 757

ER -

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

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