A-twinnipeg: Pathogenesis of rare atm missense mutation c.6200c>a with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

  • Kotoka Nakamura
  • , Francesca Fike
  • , Sara Haghayegh
  • , Rachel Saunders-Pullman
  • , Angelika J. Dawson
  • , Thilo Dork
  • , Richard A. Gatti

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16 Scopus citations

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Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology