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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Dufner Almeida, Luiz G; Nanhoe, Santoesha; Zonta, Andrea; Hosseinzadeh, Mitra; Kom-Gortat, Regina; Elfferich, Peter; Schaaf, Gerben; Kenter, Annegien; Kümmel, Daniel; Migone, Nicola; Povey, Sue; Ekong, Rosemary; Nellist, Mark.
Afiliação
  • Dufner Almeida LG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Nanhoe S; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.
  • Zonta A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Hosseinzadeh M; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Kom-Gortat R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Elfferich P; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Schaaf G; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Kenter A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Kümmel D; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Migone N; Biochemistry and Structural Biology Section, Institute of Biochemistry, University of Munster, Munster, Germany.
  • Povey S; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Ekong R; Department of Genetics, Evolution and Environment, University College London, London, UK.
  • Nellist M; Department of Genetics, Evolution and Environment, University College London, London, UK.
Hum Mutat ; 41(4): 759-773, 2020 04.
Article em En | MEDLINE | ID: mdl-31799751
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína 2 do Complexo Esclerose Tuberosa / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Estudos de Associação Genética / Proteína 2 do Complexo Esclerose Tuberosa / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2020 Tipo de documento: Article