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

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

عرض إصدارات أخرى (1)

BACKGROUND: The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investig...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Akimoto, C, Volk, A, van Blitterswijk, M, Van den Broeck, M, Leblond, C, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, D, Just, W
التنسيق: Journal article
اللغة:English
منشور في: 2014

مواد مشابهة