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Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson, Lauren S; Bournazos, Adam; Fennell, Andrew; Krzesinski, Emma I; Tan, Kenneth; Springer, Amanda; Rose, Katherine; Goranitis, Ilias; Francis, David; Lee, Crystle; Faiz, Fathimath; Davis, Mark R; Christodoulou, John; Lunke, Sebastian; Stark, Zornitza; Hunter, Matthew F; Cooper, Sandra T.
Afiliação
  • Akesson LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Bournazos A; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Fennell A; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.
  • Krzesinski EI; Kids Neuroscience Centre, Children's Hospital at Westmead, Sydney, Australia.
  • Tan K; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
  • Springer A; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.
  • Rose K; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Goranitis I; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.
  • Francis D; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Lee C; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Faiz F; Monash Newborn, Monash Health, Monash Children's Hospital, Clayton, Victoria, Australia.
  • Davis MR; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.
  • Christodoulou J; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Lunke S; Genetics Clinic, Monash Health, Monash Medical Centre, Clayton, Victoria, Australia.
  • Stark Z; Department of Paediatrics, Monash University, Melbourne, Australia.
  • Hunter MF; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
  • Cooper ST; Australian Genomics Health Alliance, Parkville, Victoria, Australia.
Hum Mutat ; 41(11): 1884-1891, 2020 11.
Article em En | MEDLINE | ID: mdl-32906196
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Splicing de RNA / Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aspartato-Amônia Ligase / Splicing de RNA / Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article