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Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2.
Miao, Sui-Bing; Guo, Hui; Kong, De-Xian; Zhao, Yuan-Yuan; Pan, Shu-Hong; Jiang, Yan; Gao, Xing; Wu, Xiao-Hua.
Afiliación
  • Miao SB; Key Laboratory of Maternal and Fetal Medicine of Hebei Province, Institute of Reproductive Medicine of Shijiazhuang, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
  • Guo H; Department of Obstetrics and Gynecology, The Fourth Affiliated Hospital of Hebei Medical University Shijiazhuang, Shijiazhuang, China.
  • Kong DX; Department of Endocrinology, The Fourth Affiliated Hospital of Hebei Medical University Shijiazhuang, Shijiazhuang, China.
  • Zhao YY; Key Laboratory of Maternal and Fetal Medicine of Hebei Province, Institute of Reproductive Medicine of Shijiazhuang, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
  • Pan SH; Key Laboratory of Maternal and Fetal Medicine of Hebei Province, Institute of Reproductive Medicine of Shijiazhuang, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
  • Jiang Y; Center of Reproductive Medicine, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
  • Gao X; Center of Reproductive Medicine, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
  • Wu XH; Key Laboratory of Maternal and Fetal Medicine of Hebei Province, Institute of Reproductive Medicine of Shijiazhuang, The Fourth Hospital of Shijiazhuang Affiliated to Hebei Medical University, Shijiazhuang, China.
Front Genet ; 13: 937485, 2022.
Article en En | MEDLINE | ID: mdl-36118858
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China