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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Morlino, Silvia; Carbone, Annalucia; Ritelli, Marco; Fusco, Carmela; Giambra, Vincenzo; Nardella, Grazia; Notarangelo, Angelantonio; Panelli, Patrizio; Mazzoccoli, Gianluigi; Zoppi, Nicoletta; Grammatico, Paola; Wade, Emma M; Colombi, Marina; Castori, Marco; Micale, Lucia.
Afiliación
  • Morlino S; Laboratory of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Carbone A; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Universityinflammatory disorders and cancer of Brescia, Brescia, Italy.
  • Fusco C; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Giambra V; Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT), Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Nardella G; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Notarangelo A; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Panelli P; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Mazzoccoli G; Institute for Stem Cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT), Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Zoppi N; Division of Internal Medicine and Unit of Chronobiology, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
  • Grammatico P; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Universityinflammatory disorders and cancer of Brescia, Brescia, Italy.
  • Wade EM; Laboratory of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
  • Colombi M; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Castori M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Universityinflammatory disorders and cancer of Brescia, Brescia, Italy.
  • Micale L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
Hum Mutat ; 40(10): 1886-1898, 2019 10.
Article en En | MEDLINE | ID: mdl-31250519
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Adaptadoras Transductoras de Señales / Matriz Extracelular / Haploinsuficiencia / Homeostasis Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 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: Variación Genética / Proteínas Adaptadoras Transductoras de Señales / Matriz Extracelular / Haploinsuficiencia / Homeostasis Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Italia