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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem.
Rodríguez-García, María Elena; Cotrina-Vinagre, Francisco Javier; Arranz-Canales, Elena; Aragón, Ana Martínez de; Hernández-Sánchez, Laura; Rodríguez-Fornés, Fátima; Carnicero-Rodríguez, Patricia; Morales-Conejo, Montserrat; Martín-Hernández, Elena; Martínez-Azorín, Francisco.
Affiliation
  • Rodríguez-García ME; Laboratorio de Enfermedades Mitocondriales, Instituto de InvestigaciÓn Hospital 12 de Octubre (i+12), 28041 Madrid, Spain. fmartinez@h12o.es.
J Genet ; 992020.
Article in En | MEDLINE | ID: mdl-32089526
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Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Genetic Predisposition to Disease / DNA-Binding Proteins / Genetic Association Studies / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: J Genet Year: 2020 Document type: Article Affiliation country: España Country of publication: India
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Genetic Predisposition to Disease / DNA-Binding Proteins / Genetic Association Studies / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Humans / Male Language: En Journal: J Genet Year: 2020 Document type: Article Affiliation country: España Country of publication: India