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A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.
Mascaro, Martina; D'Ambrosio, Luigi; Lazzari, Elisa; Almoguera, Berta; Swafiri, Saoud Tahsin; Zanchetta, Melania Eva; Meroni, Germana.
Afiliação
  • Mascaro M; Department of Life Science, University of Trieste, Trieste 34127, Italy.
  • D'Ambrosio L; Department of Life Science, University of Trieste, Trieste 34127, Italy.
  • Lazzari E; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34137, Italy.
  • Almoguera B; Department of Genetics and Genomics Fundación Jiménez Díaz University Hospital, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain.
  • Swafiri ST; Department of Genetics and Genomics Fundación Jiménez Díaz University Hospital, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain.
  • Zanchetta ME; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34137, Italy. Electronic address: melaniaeva.zanchetta@burlo.trieste.it.
  • Meroni G; Department of Life Science, University of Trieste, Trieste 34127, Italy. Electronic address: gmeroni@units.it.
Biochim Biophys Acta Mol Basis Dis ; 1870(4): 167126, 2024 04.
Article em En | MEDLINE | ID: mdl-38508475
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fissura Palatina / Mutação de Sentido Incorreto / Doenças Genéticas Ligadas ao Cromossomo X / Esôfago / Hipertelorismo / Hipospadia Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fissura Palatina / Mutação de Sentido Incorreto / Doenças Genéticas Ligadas ao Cromossomo X / Esôfago / Hipertelorismo / Hipospadia Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália