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Spectrum of clinical heterogeneity of ß-tubulin TUBB5 gene mutations.
Madrigal, I; Rabionet, R; Alvarez-Mora, M I; Sanchez, A; Rodríguez-Revenga, L; Estivill, X; Mila, M.
Afiliación
  • Madrigal I; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. Electronic address: imadbajo@clinic.cat.
  • Rabionet R; Centre for Genomic Regulation (CRG), Barcelona, Spain; Institut de Recerca Sant Joan de Déu, University of Barcelona, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), University of Barcelona, Spain; Dept. Genetics, Microbiology & Statistics, Faculty of Biology, University of
  • Alvarez-Mora MI; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
  • Sanchez A; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
  • Rodríguez-Revenga L; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
  • Estivill X; Sidra Medicine Research Center, Sidra Medicine, Doha, Qatar.
  • Mila M; Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
Gene ; 695: 12-17, 2019 May 05.
Article en En | MEDLINE | ID: mdl-30738969
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Discapacidades del Desarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Gene Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Discapacidades del Desarrollo / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Gene Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos