A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Erstveröffentlichung

2014

Authors

Akimoto, Chizuru

Volk, Alexander E.

van Blitterswijk, Marka

Van den Broeck, Marleen

Leblond, Claire S.

et al.

Wissenschaftlicher Artikel

Published in

Journal of Medical Genetics ; 51 (2014), 6. - S. 419-424. - ISSN 0022-2593. - eISSN 1468-6244

Link to publication

https://dx.doi.org/10.1136/jmedgenet-2014-102360

Institutions

UKU. Institut für Humangenetik
UKU. Klinik für Neurologie

EU Project

EURO-MOTOR / European multidisciplinary ALS network identification to cure motor neuron degeneration / EC / FP7 / 259867

Subject headings

[Free subject headings]: FRAGILE-X-SYNDROME | HEXANUCLEOTIDE REPEAT | IDENTIFICATION | CARRIERS | COHORT | FTD | ALS
[DDC subject group]: DDC 610 / Medicine & health

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Metadata

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