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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco.
Afiliación
  • Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.
  • Monetta R; Università Telematica San Raffaele, Rome, Italy.
  • Cinquina V; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Rigon C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Boaretto F; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padua, Italy.
  • De Luca C; IRP Città della Speranza, Padua, Italy.
  • Zoppi N; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padua, Italy.
  • Di Leandro L; IRP Città della Speranza, Padua, Italy.
  • De Domenico E; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Di Daniele A; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Ippoliti R; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Angelucci F; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
  • Di Cesare E; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • De Paulis R; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Salviati L; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Colombi M; Department of Life, Health, and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Brancati F; Department of Cardiac Surgery, European Hospital, Rome, Italy.
  • Ritelli M; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padua, Italy.
Eur J Hum Genet ; 31(5): 596-601, 2023 05.
Article en En | MEDLINE | ID: mdl-36599937
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Loeys-Dietz Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Italia