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Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.
Li, Yakun; Hu, Man; Han, Lin; Feng, Lifang; Yang, Luhong; Chen, Xiaoqian; Du, Tingting; Yao, Hui; Chen, Xiaohong.
Afiliação
  • Li Y; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Hu M; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Han L; Running Gene Inc., Beijing, China.
  • Feng L; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Yang L; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Chen X; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Du T; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Yao H; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Chen X; Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Front Genet ; 13: 831133, 2022.
Article em En | MEDLINE | ID: mdl-35309119
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Screening_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Screening_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China