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Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.
Brett, Maggie; Korovesis, George; Lai, Angeline H M; Lim, Eileen C P; Tan, Ene-Choo.
Afiliación
  • Brett M; KK Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.
  • Korovesis G; KK Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.
  • Lai AHM; Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.
  • Lim ECP; Paediatrics Academic Clinical Programme, SingHealth/Duke-NUS Medical School, Singapore, Singapore.
  • Tan EC; KK Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.
J Hum Genet ; 62(7): 711-715, 2017 Jul.
Article en En | MEDLINE | ID: mdl-28331219
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Seno Aórtico / Exones / Eliminación de Secuencia / Fibrilina-1 Límite: Child / Child, preschool / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Seno Aórtico / Exones / Eliminación de Secuencia / Fibrilina-1 Límite: Child / Child, preschool / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article