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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Miller, Danny E; Lee, Lin; Galey, Miranda; Kandhaya-Pillai, Renuka; Tischkowitz, Marc; Amalnath, Deepak; Vithlani, Avadh; Yokote, Koutaro; Kato, Hisaya; Maezawa, Yoshiro; Takada-Watanabe, Aki; Takemoto, Minoru; Martin, George M; Eichler, Evan E; Hisama, Fuki M; Oshima, Junko.
Afiliación
  • Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA dm1@uw.edu picard@uw.edu.
  • Lee L; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Galey M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
  • Kandhaya-Pillai R; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Tischkowitz M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
  • Amalnath D; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.
  • Vithlani A; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Yokote K; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
  • Kato H; Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Maezawa Y; Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Takada-Watanabe A; Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Takemoto M; Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Martin GM; Department of Diabetes, Metabolism and Endocrinology, International University of Health and Welfare, Otawara, Japan.
  • Eichler EE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
  • Hisama FM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
  • Oshima J; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.
J Med Genet ; 2022 May 09.
Article en En | MEDLINE | ID: mdl-35534204
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article