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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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