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Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Lin, Hsin-Ti; Enchautegui-Colon, Yazmin; Huang, Yu-Ren; Zimmerman, Chelsea; DeMarzo, Danielle; Tsai, Anne Chun-Hui.
Afiliação
  • Lin HT; Department of Medicine, Case Western Reserve University MetroHealth Medical Center, Cleveland, OH, USA.
  • Enchautegui-Colon Y; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, USA.
  • Huang YR; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, USA.
  • Zimmerman C; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, USA.
  • DeMarzo D; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, USA.
  • Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, USA.
Mol Genet Metab Rep ; 33: 100942, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36466970
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos