首页> American journal of medical genetics. Part A> Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

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第一作者： Jacob T,Cain

第一单位： Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.

作者： Jacob T,Cain ^[1] ; Dae I,Kim ^[1] ; Megan,Quast ^[1] ; Winnie G,Shivega ^[1] ; Ryan J,Patrick ^[1] ; Chuanpit,Moser ^[2] ; Suzanne,Reuter ^[3] ; Myrza,Perez ^[4] ; Angela,Myers ^[5] ; Jill M,Weimer ^[6] ; Kyle J,Roux ^[6] ; Megan,Landsverk ^[6]

作者单位： Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota. ^[1] Section of Pediatric Pulmonology, Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota. ^[2] Section of Neonatal-Perinatal Medicine, Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota. ^[3] Department of Pediatric Pulmonology, Kaiser Permanente, Roseville, California. ^[4] Department of Pediatrics, Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota. ^[5] Children's Health Research Center, Sanford Research, Sioux Falls, South Dakota.;Department of Pediatrics, Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota. ^[6]

关键词 CCHS PHOX2B mRNA reinitiation