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 Citationer (Scopus)

210 Downloads (Pure)

Originalsprog	Engelsk
Artikelnummer	757
Tidsskrift	Scientific Reports
Vol/bind	7
Antal sider	18
ISSN	2045-2322
DOI	https://doi.org/10.1038/s41598-017-00618-6
Status	Udgivet - 1 dec. 2017

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

Skjørringe_2017_Characterization_of_ATP7AForlagets udgivne version, 4,82 MBLicens: 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}",

year = "2017",

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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

C2 - 28389643

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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