A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother

Erstveröffentlichung

2014

Authors

Aulitzky, Anna

Friedrich, Katrin

Glaeser, Dieter

Gastl, Regina

Kubisch, Christian

et al.

Wissenschaftlicher Artikel

Published in

Journal of the Neurological Sciences ; 347 (2014), 1-2. - S. 352-355. - ISSN 0022-510X. - eISSN 1878-5883

Link to publication

https://dx.doi.org/10.1016/j.jns.2014.09.046

Institutions

UKU. Klinik für Neurologie
UKU. Institut für Humangenetik

Subject headings

[Free subject headings]: Hereditary spastic paraplegia | SPG4 | PAST | Somatic mosaicism | Genetic testing | De novo mutation | AUTOSOMAL-DOMINANT | DISEASE
[DDC subject group]: DDC 610 / Medicine & health

Metadata

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