Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese cas...
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
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Author / Creator
Nakamura, Haruko , Doi, Hiroshi , Mitsuhashi, Satomi , Miyatake, Satoko , Katoh, Kazutaka , Frith, Martin C. , Asano, Tetsuya , Kudo, Yosuke , Ikeda, Takuya , Kubota, Shun , Kunii, Misako , Kitazawa, Yu , Tada, Mikiko , Okamoto, Mitsuo , Joki, Hideto , Takeuchi, Hideyuki , Matsumoto, Naomichi and Tanaka, Fumiaki
Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Recently, a recessively inherited intronic repeat expansion in replication factor C1 (RFC1) was identified in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Here, we describe a Japanese case of genetically confirmed CANVAS with autonomic failure and auditory hallucination. The case showed impaired uptake of...
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Full title
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
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TN_cdi_proquest_journals_2384801583
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2384801583
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-0733-y
