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ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian, Yue; Qiao, Chong; Zheng, ShuGuang; Qiu, Hao; Li, Huan; Zhang, ZhiTao; Yin, ShaoWei; Jiang, HongKun; Li-Ling, Jesse; Liu, CaiXia; Lyu, Yuan.
Afiliação
  • Bian Y; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Qiao C; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Research Center of China Medical University Birth Cohort, Shenyang, China.
  • Zheng S; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Qiu H; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Research Center of China Medical University Birth Cohort, Shenyang, China.
  • Li H; Department of Radiology, The People's Hospital of China Medical University, Shenyang, China.
  • Zhang Z; Dian Diagnostics Group Co., LTD., Hangzhou, China.
  • Yin S; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Jiang H; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Li-Ling J; Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, China.
  • Liu C; Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, China.
  • Lyu Y; Jinxin Research Institute of Reproductive Medicine and Genetics, Jinjiang Maternal and Children's Health Care Hospital, Chengdu, China.
J Hum Genet ; 65(12): 1129-1134, 2020 Dec.
Article em En | MEDLINE | ID: mdl-32655146
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Nervoso Central / Defeitos Congênitos da Glicosilação / Genes Letais / Manosiltransferases Limite: Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema Nervoso Central / Defeitos Congênitos da Glicosilação / Genes Letais / Manosiltransferases Limite: Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China