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A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
Okawa, Tetsuji; Yoshida, Masanori; Usui, Takeshi; Kudou, Takahiro; Iwasaki, Yasumasa; Fukuoka, Kazuki; Takahashi, Norio; Uehara, Yuka; Oiso, Yutaka.
Afiliación
  • Okawa T; Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, 4-66 Shounen-cho, Nakagawawa-ku, Nagoya, 454-8502, Japan. tetsujimd@emobile.ne.jp.
  • Yoshida M; Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, 4-66 Shounen-cho, Nakagawawa-ku, Nagoya, 454-8502, Japan. yoshidaz@ekisai.or.jp.
  • Usui T; Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, 612-8555, Japan. tusui1220@gmail.com.
  • Kudou T; Laboratory of Protein Informatics, Research Center for State-of-the-Art Functional Protein Analysis, Institute for Protein Research, Osaka University, Suita, 565-0871, Japan. t-kudou@protein.osaka-u.ac.jp.
  • Iwasaki Y; Health Care Center, Kochi University, Kochi, 780-8520, Japan. iwasakiyasumasa@gmail.com.
  • Fukuoka K; Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, 4-66 Shounen-cho, Nakagawawa-ku, Nagoya, 454-8502, Japan. kazukifukuoka@nifty.com.
  • Takahashi N; Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, 4-66 Shounen-cho, Nakagawawa-ku, Nagoya, 454-8502, Japan. norio_03_02@ybb.ne.jp.
  • Uehara Y; Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital, 4-66 Shounen-cho, Nakagawawa-ku, Nagoya, 454-8502, Japan. myavp@zm.commufa.jp.
  • Oiso Y; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, 466-8550, Japan. yutakamd@med.nagoya-u.ac.jp.
BMC Endocr Disord ; 15: 66, 2015 Oct 30.
Article en En | MEDLINE | ID: mdl-26514990
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Factor de Transcripción GATA3 / Hipoparatiroidismo / Riñón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: BMC Endocr Disord Año: 2015 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Factor de Transcripción GATA3 / Hipoparatiroidismo / Riñón / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: BMC Endocr Disord Año: 2015 Tipo del documento: Article País de afiliación: Japón