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Vill, K.* ; Müller-Felber, W.* ; Alhaddad, B.* ; Strom, T.M. ; Teusch, V.* ; Weigand, H.* ; Blaschek, A.* ; Meitinger, T. ; Haack, T.B.

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

Mov. Disord. 32, 797-799 (2017)

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Publication type Article: Journal article

Document type Scientific Article

Keywords Intellectual Disability; Spastic Tetraplegia; Mutations

ISSN (print) / ISBN 0885-3185

e-ISSN 1531-8257

Journal Movement Disorders

Quellenangaben Volume: 32, Issue: 5, Pages: 797-799

Publisher Wiley

Publishing Place Hoboken

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)