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

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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Other URL: http://doi.org/10.1002/mds.26922


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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Röntgendiagnostik
Identification Number:
ValueType
10.1002/mds.26922DOI
Keywords:INTELLECTUAL DISABILITY; SPASTIC TETRAPLEGIA; MUTATIONS;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:39027
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