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FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.
Santa María, Lorena; Aliaga, Solange; Faundes, Víctor; Morales, Paulina; Pugin, Ángela; Curotto, Bianca; Soto, Paula; Peña, M Ignacia; Salas, Isabel; Alliende, M Angélica.
Afiliación
  • Santa María L; Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Aliaga S; Center for Diagnosis and Treatment of Fragile X Syndrome Patients (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Faundes V; Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Morales P; Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Pugin Á; Center for Diagnosis and Treatment of Fragile X Syndrome Patients (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Curotto B; Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Soto P; Center for Diagnosis and Treatment of Fragile X Syndrome Patients (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Peña MI; Center for Diagnosis and Treatment of Fragile X Syndrome Patients (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Salas I; Center for Diagnosis and Treatment of Fragile X Syndrome Patients (CDTSXF),Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
  • Alliende MA; Cytogenetics and Molecular Laboratory,Institute of Nutrition and Food Technology (INTA),University of Chile,Santiago,Chile.
Genet Res (Camb) ; 98: e11, 2016 06 28.
Article en En | MEDLINE | ID: mdl-27350105
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Predisposición Genética a la Enfermedad / Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil / Síndrome del Cromosoma X Frágil / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: America do sul / Chile Idioma: En Revista: Genet Res (Camb) Año: 2016 Tipo del documento: Article País de afiliación: Chile
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuencias Repetitivas de Ácidos Nucleicos / Predisposición Genética a la Enfermedad / Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil / Síndrome del Cromosoma X Frágil / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: America do sul / Chile Idioma: En Revista: Genet Res (Camb) Año: 2016 Tipo del documento: Article País de afiliación: Chile