Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies

Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies

Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 (RFC1) have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome. This genetic alteration has also allowed genetic classification in up to one-third of c...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Nagy, S, Carr, A, Mroczek, M, Rinaldi, S, Curro, R, Dominik, N, Japzon, N, Magrinelli, F, Lunn, MP, Manji, H, Reilly, MM, Cortese, A, Houlden, H
التنسيق: Journal article
اللغة:English
منشور في: Oxford University Press 2024

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