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A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I.
Valmiki, Sailaja; Mandapati, Kiran Kumar; Miriyala, Leela Krishna Vamsee; Kelgeri, Chayarani Chandrashekhar; Rela, Mohamed; Shanmugam, Naresh P; Vegulada, Durga Rao.
Afiliação
  • Valmiki S; Department of Molecular Diagnostics, Genes N Life Healthcare Pvt. Ltd., Punjagutta, Hyderabad, 500 082, India. sailaja.v@genesnlife.com.
  • Mandapati KK; Department of Molecular Diagnostics, Genes N Life Healthcare Pvt. Ltd., Punjagutta, Hyderabad, 500 082, India.
  • Miriyala LKV; Department of Molecular Diagnostics, Genes N Life Healthcare Pvt. Ltd., Punjagutta, Hyderabad, 500 082, India.
  • Kelgeri CC; Department of Paediatric Gastroenterology, Hepatology and Transplantation, Institute of Liver Diseases and Transplantation, Gleneageles Global Health City, Chennai, India.
  • Rela M; Department of Paediatric Gastroenterology, Hepatology and Transplantation, Institute of Liver Diseases and Transplantation, Gleneageles Global Health City, Chennai, India.
  • Shanmugam NP; Department of Paediatric Gastroenterology, Hepatology and Transplantation, Institute of Liver Diseases and Transplantation, Gleneageles Global Health City, Chennai, India.
  • Vegulada DR; Department of Molecular Diagnostics, Genes N Life Healthcare Pvt. Ltd., Punjagutta, Hyderabad, 500 082, India. durgarao@genesnlife.com.
BMC Gastroenterol ; 20(1): 62, 2020 Mar 06.
Article em En | MEDLINE | ID: mdl-32143638
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glucuronosiltransferase / Duplicação Gênica / Síndrome de Crigler-Najjar Tipo de estudo: Prognostic_studies País/Região como assunto: Africa Idioma: En Revista: BMC Gastroenterol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia
Texto completo
Adicionar na Minha BVS
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glucuronosiltransferase / Duplicação Gênica / Síndrome de Crigler-Najjar Tipo de estudo: Prognostic_studies País/Região como assunto: Africa Idioma: En Revista: BMC Gastroenterol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia