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Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
Yamamoto, Satoko; Kaimori, Jun-Ya; Yoshimura, Takuji; Namba, Tomoko; Imai, Atsuko; Kobayashi, Kaori; Imamura, Ryoichi; Ichimaru, Naotsugu; Kato, Kazuto; Nakaya, Akihiro; Takahara, Shiro; Isaka, Yoshitaka.
Affiliation
  • Yamamoto S; Department of Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Kaimori JY; Department of Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Yoshimura T; Department of Advanced Technology of Transplantation, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Namba T; Laboratory of Reproductive Engineering, Institute of Experimental Animal Sciences, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Imai A; Department of Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Kobayashi K; Department of Genome Informatics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Imamura R; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Ichimaru N; Department of Genome Informatics, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Kato K; Medical Solutions Division, NEC Corporation, Tokyo, Japan.
  • Nakaya A; Department of Urology, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Takahara S; Department of Advanced Technology of Transplantation, Osaka University Graduate School of Medicine, Osaka, Japan.
  • Isaka Y; Department of Biomedical Ethics and Public Policy, Osaka University Graduate School of Medicine, Osaka, Japan.
Nephrol Dial Transplant ; 32(12): 2010-2017, 2017 Dec 01.
Article in En | MEDLINE | ID: mdl-29156055
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Polycystic Kidney, Autosomal Dominant / Mucin-1 / Mutant Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Nephrol Dial Transplant Journal subject: NEFROLOGIA / TRANSPLANTE Year: 2017 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frameshift Mutation / Polycystic Kidney, Autosomal Dominant / Mucin-1 / Mutant Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Nephrol Dial Transplant Journal subject: NEFROLOGIA / TRANSPLANTE Year: 2017 Document type: Article Affiliation country: Country of publication: