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Cas9-guided haplotyping of three truncation variants in autosomal recessive disease.
Natsuga, Ken; Furuta, Yoshikazu; Takashima, Shota; Nohara, Takuma; Huang, Hsin-Yu; Shinkuma, Satoru; Nakamura, Hideki; Katsuda, Yousuke; Higashi, Hideaki; Hsu, Chao-Kai; Fukushima, Satoshi; Ujiie, Hideyuki.
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  • Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Furuta Y; Division of Infection and Immunity, International Institute for Zoonosis Control, Hokkaido University, Sapporo, Japan.
  • Takashima S; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Nohara T; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Huang HY; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Shinkuma S; Department of Dermatology, Nara Medical University School of Medicine, Kashihara, Japan.
  • Nakamura H; Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Katsuda Y; Division of Materials Science and Chemistry, Faculty of Advanced Science and Technology, Kumamoto University, Kumamoto, Japan.
  • Higashi H; Division of Infection and Immunity, International Institute for Zoonosis Control, Hokkaido University, Sapporo, Japan.
  • Hsu CK; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Fukushima S; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Ujiie H; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.
Hum Mutat ; 43(7): 877-881, 2022 07.
Article en En | MEDLINE | ID: mdl-35446444
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Distrófica / Colágeno Tipo VII Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Distrófica / Colágeno Tipo VII Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Japón