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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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