Art

J-GLOBAL ID：201902202062022397   Reference number：19S0397379

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

Author (9)： Okawa, Tetsuji (Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital) ,  Yoshida, Masanori (Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital) ,  Fukuoka, Kazuki (Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital) ,  Takahashi, Norio (Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital) ,  Uehara, Yuka (Department of Endocrinology and Diabetes, Nagoya Ekisaikai Hospital) ,  Usui, Takeshi (Clinical Research Institute, National Hospital Organization Kyoto Medical Center) ,  Kudou, Takahiro (Laboratory of Protein Informatics, Research Center for State-of-the-Art Functional Protein Analysis, Institute for Protein Research, Osaka University) ,  Iwasaki, Yasumasa (Health Care Center, Kochi University) ,  Oiso, Yutaka (Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine)
Material： BMC Endocrine Disorders
Volume： 15  Issue： 1  Publication year： 2015 
JST Material Number： SCOPUS  ISSN： 1472-6823  CODEN： BEDMA 
Country of issue： United Kingdom (GBR)  Language： English (EN)

Terms in the title (2)： GATA3 ,  DYSPLASIA