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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
Mirabello, Lisa; Macari, Elizabeth R; Jessop, Lea; Ellis, Steven R; Myers, Timothy; Giri, Neelam; Taylor, Alison M; McGrath, Katherine E; Humphries, Jessica M; Ballew, Bari J; Yeager, Meredith; Boland, Joseph F; He, Ji; Hicks, Belynda D; Burdett, Laurie; Alter, Blanche P; Zon, Leonard; Savage, Sharon A.
Afiliación
  • Mirabello L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Macari ER; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, Boston, MA;
  • Jessop L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Ellis SR; Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY;
  • Myers T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Giri N; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Taylor AM; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, Boston, MA;
  • McGrath KE; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, Boston, MA;
  • Humphries JM; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, Boston, MA;
  • Ballew BJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Yeager M; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD; and.
  • Boland JF; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD; and.
  • He J; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD; and.
  • Hicks BD; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD; and.
  • Burdett L; Cancer Genomics Research Laboratory, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, MD; and.
  • Alter BP; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
  • Zon L; Stem Cell Program and Division of Hematology/Oncology, Children's Hospital Boston and Dana-Farber Cancer Institute, Boston, MA; Harvard Medical School, Boston, MA.
  • Savage SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD;
Blood ; 124(1): 24-32, 2014 Jul 03.
Article en En | MEDLINE | ID: mdl-24829207
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Blood Año: 2014 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Blood Año: 2014 Tipo del documento: Article