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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
Cao, Yixuan; You, Yi; Wang, Qiong; Ren, Xiuzhi; Li, Shan; Li, Lulu; Xia, Weibo; Guan, Xin; Yang, Tao; Ikegawa, Shiro; Wang, Zheng; Zhao, Xiuli.
Affiliation
  • Cao Y; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • You Y; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Wang Q; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Ren X; The People's Hospital of Wuqing District, Tianjin, 301700, China.
  • Li S; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Li L; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Xia W; Department of Endocrinology, Key Laboratory of Endocrinology of the Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.
  • Guan X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Yang T; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences (IMS), Tokyo, 108-8639, Japan.
  • Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences (IMS), Tokyo, 108-8639, Japan.
  • Zhao X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China. xiulizhao@ibms.pumc.edu.cn.
BMC Med Genomics ; 15(1): 161, 2022 07 16.
Article de En | MEDLINE | ID: mdl-35842615
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rachitisme hypophosphatémique familial / Rachitisme hypophosphatémique Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Humans Pays/Région comme sujet: Asia Langue: En Journal: BMC Med Genomics Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: Chine
Texte intégral
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Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Rachitisme hypophosphatémique familial / Rachitisme hypophosphatémique Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Humans Pays/Région comme sujet: Asia Langue: En Journal: BMC Med Genomics Sujet du journal: GENETICA MEDICA Année: 2022 Type de document: Article Pays d'affiliation: Chine