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Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro, Dario; Augello, Bartolomeo; De Nittis, Pasquelena; Zhang, Jiyuan; Mandriani, Barbara; Malerba, Natascia; Squeo, Gabriella M; Romano, Alessandro; Piccinni, Barbara; Verri, Tiziano; Micale, Lucia; Pasqualucci, Laura; Merla, Giuseppe.
Afiliación
  • Cocciadiferro D; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
  • Augello B; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, Italy.
  • De Nittis P; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
  • Zhang J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Mandriani B; Department of Pathology and Cell Biology, Institute for Cancer Genetics, Columbia University, New York, NY, USA.
  • Malerba N; Telethon Institute of Genetics and Medicine, TIGEM, Pozzuoli, Naples, Italy.
  • Squeo GM; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
  • Romano A; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, Italy.
  • Piccinni B; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
  • Verri T; Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
  • Micale L; Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy.
  • Pasqualucci L; Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy.
  • Merla G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
Hum Mol Genet ; 27(21): 3651-3668, 2018 11 01.
Article en En | MEDLINE | ID: mdl-30107592
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Mutación Missense / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Mutación Missense / Proteínas de Unión al ADN / Cara / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Italia