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1دورية أكاديمية
المؤلفون: Takumi Nakamura, Natsumi Ohsawa-Yoshida, Yimeng Zhao, Michinori Koebis, Kosuke Oana, Hiroaki Mitsuhashi, Shoichi Ishiura
المصدر: Biochemistry and Biophysics Reports, Vol 5, Iss C, Pp 63-69 (2016)
مصطلحات موضوعية: Myotonic dystrophy, MBNL1, Splicing, Human chloride channel 1 gene, Biology (General), QH301-705.5, Biochemistry, QD415-436
وصف الملف: electronic resource
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2
المؤلفون: Kosuke Oana, Natsumi Ohsawa-Yoshida, Shoichi Ishiura, Yimeng Zhao, Takumi Nakamura, Michinori Koebis, Hiroaki Mitsuhashi
المصدر: Biochemistry and Biophysics Reports
Biochemistry and Biophysics Reports, Vol 5, Iss C, Pp 63-69 (2016)مصطلحات موضوعية: 0301 basic medicine, Myotonic dystrophy, Biophysics, Exonic splicing enhancer, Human chloride channel 1 gene, Biology, Splicing, Biochemistry, lcsh:Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Exon, medicine, MBNL1, lcsh:QD415-436, lcsh:QH301-705.5, Genetics, Alternative splicing, medicine.disease, Stop codon, 030104 developmental biology, lcsh:Biology (General), chemistry, RNA splicing, Minigene, Research Article
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3
المؤلفون: Yasuko Toyoshima, Shoichi Ishiura, Taisuke Otsuki, Yoshikazu Ugawa, Norio Kanesawa, Yutaka Suzuki, Akira Tamaoka, Yuji Takahashi, Masashi Hamada, Ryoko Koike, Hiroshi Akiyama, Ritsuko Hanajima, Jun Shimizu, Hitoshi Takahashi, Koji Abe, Takashi Matsukawa, Takefumi Hitomi, Jun Mitsui, Mieko Otsuka, Yasuo Terao, Shota Shibata, Mutsuo Sasagawa, Shoji Tsuji, Yutaka Saito, Takeshi Yasuda, Takayuki Kondo, Wei Qu, Koichiro Higasa, Masaki Tanaka, Asao Fujiyama, Sumio Sugano, Akira Sano, Hideaki Yurino, Hidetoshi Date, Miho Matsukawa, Junko Kanda, Osamu Onodera, Satomi Inomata-Terada, Masayuki Nakamura, Yuichiro Shirota, Akatsuki Kubota, Jun Yoshimura, Toshihiro Hayashi, Ryo Yamasaki, K. Kaida, Akio Ikeda, Akiyoshi Kakita, Yoshio Sakiyama, Kazuhiro Sanpei, Jun Goto, Yasuko Kuroha, Aki Mitsue, Naoya Hasegawa, Masatoyo Nishizawa, Hiroki Takano, Akira Ueki, Kazuki Ichikawa, Fumiko Kusunoki Nakamoto, Mana Higashihara, Yoshihisa Takiyama, Shinichi Morishita, Koichiro Doi, Yaeko Ichikawa, Natsumi Ohsawa-Yoshida, Kishin Koh, Hiroyuki Ishiura, Masayoshi Tada
المصدر: Nature genetics. 50(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Benign adult familial myoclonic epilepsy, Sequence analysis, Current Literature In Clinical Sciences, Epilepsies, Myoclonic, Nerve Tissue Proteins, Biology, Autoantigens, Genomic Instability, 03 medical and health sciences, Epilepsy, Purkinje Cells, 0302 clinical medicine, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Age of Onset, Gene, DNA Repeat Expansion, Base Sequence, Intron, RNA-Binding Proteins, Sequence Analysis, DNA, medicine.disease, Introns, Pedigree, Sterile Alpha Motif, genomic DNA, 030104 developmental biology, Female, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats