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Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.
Senju, Chikako; Nakazawa, Yuka; Shimada, Mayuko; Iwata, Dai; Matsuse, Michiko; Tanaka, Katsumi; Miyazaki, Yasushi; Moriwaki, Shinichi; Mitsutake, Norisato; Ogi, Tomoo.
Affiliation
  • Senju C; Department of Hematology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Nakazawa Y; Department of Plastic and Reconstructive Surgery, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Shimada M; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Iwata D; Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Nagoya, Japan.
  • Matsuse M; Department of Genome Repair, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
  • Tanaka K; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Miyazaki Y; Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Nagoya, Japan.
  • Moriwaki S; Department of Genome Repair, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
  • Mitsutake N; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
  • Ogi T; Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Nagoya, Japan.
Front Pediatr ; 10: 1048002, 2022.
Article in En | MEDLINE | ID: mdl-36405817
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Pediatr Year: 2022 Document type: Article Affiliation country: Japan Country of publication: Switzerland
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Pediatr Year: 2022 Document type: Article Affiliation country: Japan Country of publication: Switzerland