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A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.
Wanlapakorn, N; Nilyanimit, P; Vorawandthanachai, T; Deesudjit, T; Dumrongpisutikul, N; Poovorawan, Y.
Afiliación
  • Wanlapakorn N; Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Nilyanimit P; Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Vorawandthanachai T; Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Deesudjit T; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Dumrongpisutikul N; Department of Radiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Poovorawan Y; Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand Yong.P@chula.ac.th.
Genet Mol Res ; 14(1): 419-25, 2015 Jan 23.
Article en En | MEDLINE | ID: mdl-25729974
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exones / Glucuronosiltransferasa / Codón de Terminación / Síndrome de Crigler-Najjar / Pueblo Asiatico / Mutación Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Genet Mol Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Tailandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exones / Glucuronosiltransferasa / Codón de Terminación / Síndrome de Crigler-Najjar / Pueblo Asiatico / Mutación Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Genet Mol Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Tailandia