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The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Davidson, Joanne E; Russell, Jacqueline S; Martinez, Noelia Nunez; Mowat, David R; Jones, Kristi J; Kirk, Edwin P; Kariyawasam, Didu; Farrar, Michelle; D'Silva, Arlene.
Afiliación
  • Davidson JE; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
  • Russell JS; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
  • Martinez NN; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
  • Mowat DR; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
  • Jones KJ; Department of Clinical Genetics, The Children's Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia.
  • Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
  • Kariyawasam D; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
  • Farrar M; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
  • D'Silva A; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
Genes (Basel) ; 14(7)2023 07 06.
Article en En | MEDLINE | ID: mdl-37510307
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: Oceania Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Australia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: Oceania Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Australia