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

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Wissenschaftlicher Artikel

Authors

Akimoto, Chizuru

Volk, Alexander E.

van Blitterswijk, Marka

Van den Broeck, Marleen

Leblond, Claire S.

et al.

Institutions

UKU. Institut für Humangenetik
UKU. Klinik für Neurologie

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

EU Project

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

Keywords

FRAGILE-X-SYNDROME; HEXANUCLEOTIDE REPEAT; IDENTIFICATION; CARRIERS; COHORT; FTD; ALS

Dewey Decimal Group

DDC 610 / Medicine & health

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