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Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
Tran, Van Khanh; Diep, Quang Minh; Qiu, Zilong; Le, Thi Phuong; Do, Long Duy; Tran, Hai Anh; Bui, The-Hung; Ta, Thanh Van; Tran, Thinh Huy.
Afiliação
  • Tran VK; Hanoi Medical University, Hanoi, Viet Nam.
  • Diep QM; Quang Ninh Hospital for Obstetric and Pediatric, Quang Ninh, Viet Nam.
  • Qiu Z; BGI Genomics, BGI-Shenzhen, Shenzhen 518083, China.
  • Le TP; Hanoi Medical University, Hanoi, Viet Nam.
  • Do LD; Quang Ninh Hospital for Obstetric and Pediatric, Quang Ninh, Viet Nam.
  • Tran HA; Hanoi Medical University, Hanoi, Viet Nam.
  • Bui TH; Hanoi Medical University, Hanoi, Viet Nam; Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
  • Ta TV; Hanoi Medical University, Hanoi, Viet Nam.
  • Tran TH; Hanoi Medical University, Hanoi, Viet Nam. Electronic address: tranhuythinh@hmu.edu.vn.
Taiwan J Obstet Gynecol ; 61(1): 153-156, 2022 Jan.
Article em En | MEDLINE | ID: mdl-35181030
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Carnitina Aciltransferases / Nascimento Prematuro / Erros Inatos do Metabolismo Lipídico Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Carnitina Aciltransferases / Nascimento Prematuro / Erros Inatos do Metabolismo Lipídico Idioma: En Ano de publicação: 2022 Tipo de documento: Article