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Vill, Katharina ; Müller-Felber, Wolfgang ; Alhaddad, Bader ; Strom, Tim M. ; Teusch, Veronika ; Weigand, Heike ; Blaschek, Astrid ; Meitinger, Thomas ; Haack, Tobias B.

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Article

Vill, Katharina, Müller-Felber, Wolfgang, Alhaddad, Bader, Strom, Tim M., Teusch, Veronika, Weigand, Heike, Blaschek, Astrid, Meitinger, Thomas and Haack, Tobias B. (2017) A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. Movement Disorders 32 (5), pp. 797-799.



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Details

Item typeArticle
Journal or Publication TitleMovement Disorders
PublisherWiley
Place of PublicationHOBOKEN
Volume32
Number of Issue or Book Chapter5
Page Rangepp. 797-799
Date2017
Date of publication20 Mar 2019 12:56
InstitutionsMedicine > Lehrstuhl für Röntgendiagnostik
Identification Number
ValueType
10.1002/mds.26922DOI
KeywordsINTELLECTUAL DISABILITY; SPASTIC TETRAPLEGIA; MUTATIONS;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID39027

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