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Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues, Fernanda; Donaires, Flávia S; Pinto, André; Vicente, Alana; Dillon, Laura W; Clé, Diego V; Santana, Barbara A; Pirooznia, Mehdi; Ibanez, Maria Del Pilar F; Townsley, Danielle M; Kajigaya, Sachiko; Hourigan, Christopher S; Cooper, James N; Calado, Rodrigo T; Young, Neal S.
Afiliação
  • Gutierrez-Rodrigues F; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Donaires FS; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Pinto A; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Vicente A; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Dillon LW; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Clé DV; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Santana BA; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Pirooznia M; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
  • Ibanez MDPF; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Townsley DM; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Kajigaya S; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Hourigan CS; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Cooper JN; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Calado RT; Hematology Branch, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.
  • Young NS; Department of Internal Medicine, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil. rtcalado@usp.br.
Genet Med ; 21(7): 1594-1602, 2019 07.
Article em En | MEDLINE | ID: mdl-30523342

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regiões Promotoras Genéticas / Telômero / Telomerase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regiões Promotoras Genéticas / Telômero / Telomerase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
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