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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
Hiraide, Takuya; Shimizu, Kenji; Miyamoto, Sachiko; Aoto, Kazushi; Nakashima, Mitsuko; Yamaguchi, Tomomi; Kosho, Tomoki; Ogata, Tsutomu; Saitsu, Hirotomo.
Afiliación
  • Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Shimizu K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Miyamoto S; Division of Medical Genetics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Yamaguchi T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Ogata T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Saitsu H; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
J Hum Genet ; 67(7): 387-392, 2022 Jul.
Article en En | MEDLINE | ID: mdl-35067677
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Orina / Empalme del ARN / Fibrilina-1 / Síndrome de Marfan Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Orina / Empalme del ARN / Fibrilina-1 / Síndrome de Marfan Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article