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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Donovan, Frank X; Kimble, Danielle C; Kim, Yonghwan; Lach, Francis P; Harper, Ursula; Kamat, Aparna; Jones, MaryPat; Sanborn, Erica M; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L; Ostrander, Elaine A; Auerbach, Arleen D; Smogorzewska, Agata; Chandrasekharappa, Settara C.
Afiliación
  • Donovan FX; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Kimble DC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Kim Y; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York.
  • Lach FP; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York.
  • Harper U; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Kamat A; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Jones M; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Sanborn EM; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York.
  • Tryon R; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Wagner JE; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • MacMillan ML; Blood and Marrow Transplant Program, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Ostrander EA; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, New York.
  • Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, New York.
  • Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Hum Mutat ; 37(5): 465-8, 2016 May.
Article en En | MEDLINE | ID: mdl-26841305

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Disomía Uniparental / Recombinasas / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi Tipo de estudio: Etiology_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Disomía Uniparental / Recombinasas / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi Tipo de estudio: Etiology_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article