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

Erstveröffentlichung

2014

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Wissenschaftlicher Artikel

Authors

Aulitzky, Anna

Friedrich, Katrin

Glaeser, Dieter

Gastl, Regina

Kubisch, Christian

et al.

Institutions

UKU. Klinik für Neurologie
UKU. Institut für Humangenetik

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

Keywords

Hereditary spastic paraplegia; SPG4; PAST; Somatic mosaicism; Genetic testing; De novo mutation; AUTOSOMAL-DOMINANT; DISEASE

Dewey Decimal Group

DDC 610 / Medicine & health

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