Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese

S Miyatake, H Doi, H Yaguchi, E Koshimizu… - Journal of Neurology …, 2024 - jnnp.bmj.com
Background Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …
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Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese

S Miyatake, H Doi, H Yaguchi… - Journal of neurology … - pubmed.ncbi.nlm.nih.gov
Background Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.

S Miyatake, H Yaguchi, E Koshimizu… - Journal of Neurology …, 2024 - europepmc.org
Background Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …