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Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu, Jing; Wang, Zhongjie; Yan, Huiming; Teng, Yanling; Shi, Qingxin; Chen, Jing; Tang, Wanglan; Yu, Wenxian; Peng, Ying; Xi, Hui; Ma, Na; Liang, Desheng; Li, Zhuo; Wu, Lingqian.
Afiliação
  • Liu J; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Wang Z; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
  • Yan H; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China.
  • Teng Y; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Shi Q; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China.
  • Chen J; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China.
  • Tang W; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Yu W; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Peng Y; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Xi H; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Ma N; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
  • Liang D; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
  • Li Z; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan, China.
  • Wu L; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, China.
Front Genet ; 14: 1172947, 2023.
Article em En | MEDLINE | ID: mdl-37485339
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China