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A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.
Hasegawa, Kosei; Tanaka, Hiroyuki; Futagawa, Natsuko; Miyahara, Hiroyuki; Higuchi, Yousuke; Tsukahara, Hirokazu.
Affiliation
  • Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Tanaka H; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Futagawa N; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan.
  • Miyahara H; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Higuchi Y; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
  • Tsukahara H; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
Am J Med Genet A ; 188(1): 249-252, 2022 01.
Article in En | MEDLINE | ID: mdl-34453469
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Interferons / Autoimmune Diseases of the Nervous System Type of study: Diagnostic_studies Limits: Humans / Male Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Japan Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Interferons / Autoimmune Diseases of the Nervous System Type of study: Diagnostic_studies Limits: Humans / Male Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Japan Country of publication: United States