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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Mirabello, Lisa; Khincha, Payal P; Ellis, Steven R; Giri, Neelam; Brodie, Seth; Chandrasekharappa, Settara C; Donovan, Frank X; Zhou, Weiyin; Hicks, Belynda D; Boland, Joseph F; Yeager, Meredith; Jones, Kristine; Zhu, Bin; Wang, Mingyi; Alter, Blanche P; Savage, Sharon A.
Afiliación
  • Mirabello L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Khincha PP; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Ellis SR; Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky, USA.
  • Giri N; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Brodie S; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Donovan FX; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Zhou W; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Hicks BD; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Boland JF; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Yeager M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Jones K; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Zhu B; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
  • Wang M; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Alter BP; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
  • Savage SA; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA.
J Med Genet ; 54(6): 417-425, 2017 06.
Article en En | MEDLINE | ID: mdl-28280134
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ribosomas / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ribosomas / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos