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Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia.
Iwasa, Toru; Urasaki, Akihiro; Kakihana, Yuki; Nagata-Akaho, Nami; Harada, Yukihiro; Takeda, Soichi; Kawamura, Teruhisa; Shiraishi, Isao; Kurosaki, Kenichi; Morisaki, Hiroko; Yamada, Osamu; Nakagawa, Osamu.
Affiliation
  • Iwasa T; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Urasaki A; Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Kakihana Y; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Nagata-Akaho N; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Harada Y; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Takeda S; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Kawamura T; Laboratory of Stem Cell and Regenerative Medicine, Department of Biomedical Sciences, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.
  • Shiraishi I; Department of Advanced Medical Technologies, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Kurosaki K; Laboratory of Stem Cell and Regenerative Medicine, Department of Biomedical Sciences, College of Life Sciences, Ritsumeikan University, 1-1-1 Noji-Higashi, Kusatsu, Shiga 525-8577, Japan.
  • Morisaki H; Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Yamada O; Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shimmachi, Suita, Osaka 564-8565, Japan.
  • Nakagawa O; Department of Medical Genetics, Sakakibara Heart Institute, 3-16-1 Asahi-cho, Fuchu, Tokyo 183-0003, Japan.
J Clin Med ; 12(15)2023 Jul 29.
Article in En | MEDLINE | ID: mdl-37568404

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: J Clin Med Year: 2023 Document type: Article Affiliation country: Japón

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: J Clin Med Year: 2023 Document type: Article Affiliation country: Japón