De novo SPAST mutations may cause a complex SPG4 phenotype
Author(s) -
Jolanda Schieving,
Susanne T. de Bot,
Laura A. van de Pol,
Nicole I. Wolf,
Eva H. Brilstra,
Suzanna G.M. Frints,
Judith van Gaalen,
Mala MisraIsrie,
Maartje Pennings,
Corien C. VerschuurenBemelmans,
ErikJan Kamsteeg,
Bart P.C. van de Warrenburg,
Michèl A.A.P. Willemsen
Publication year - 2019
Publication title -
brain
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awz140
Subject(s) - phenotype , genetics , biology , computational biology , medicine , gene
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