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1 Ergebnisse
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Long-read sequencing identifies the pathogenic nucleotide r..:
Nakamura, Haruko
;
Doi, Hiroshi
;
Mitsuhashi, Satomi
...
Journal of Human Genetics. 65 (2020) 5 - p. 475-480 , 2020
Link:
https://doi.org/10.1038/s10038-020-0733-y
RT Journal T1
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s10038-020-0733-y&Exemplar=1&LAN=DE A1 Nakamura, Haruko A1 Doi, Hiroshi A1 Mitsuhashi, Satomi A1 Miyatake, Satoko A1 Katoh, Kazutaka A1 Frith, Martin C. A1 Asano, Tetsuya A1 Kudo, Yosuke A1 Ikeda, Takuya A1 Kubota, Shun A1 Kunii, Misako A1 Kitazawa, Yu A1 Tada, Mikiko A1 Okamoto, Mitsuo A1 Joki, Hideto A1 Takeuchi, Hideyuki A1 Matsumoto, Naomichi A1 Tanaka, Fumiaki PB Springer Science and Business Media LLC YR 2020 SN 1434-5161 SN 1435-232X JF Journal of Human Genetics VO 65 IS 5 SP 475 OP 480 LK http://dx.doi.org/https://doi.org/10.1038/s10038-020-0733-y DO https://doi.org/10.1038/s10038-020-0733-y SF ELIB - SuUB Bremen
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