Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

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作者： Manabu,Nakayama ^[1] ; Hirotsugu,Oda ^[2] ; Kenji,Nakagawa ^[3] ; Takahiro,Yasumi ^[3] ; Tomoki,Kawai ^[3] ; Kazushi,Izawa ^[3] ; Ryuta,Nishikomori ^[3] ; Toshio,Heike ^[3] ; Osamu,Ohara ^[3]

作者单位： Department of Technology Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan. ^[1] Laboratory of Pharmacogenomics, Graduate School of Pharmaceutical Sciences, Chiba University, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan. ^[2] Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin Sakyo, Kyoto 606-8597, Japan. ^[3] Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences (IMS), 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan. ^[4]

关键词 Amplicon sequencing Multiplex PCR Next-generation sequencing (NGS)Primary immunodeficiency diseases (PIDs)Somatic mosaicism

DOI 10.1016/j.bbrep.2016.12.002

PMID 28956000

发布时间 2020-09-30

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Biochemistry and biophysics reports

2017年9卷

146-152页

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry and biophysics reports

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry and biophysics reports

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Biochemistry and biophysics reports

相关期刊

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