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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Haematologica. 2018 Dec;103(12):e561-e563. Epub 2018 Jul 13
Simon Berhe 1 , Matthew M Heeney 2 , Dean R Campagna 1 , John F Thompson 3 , Eric J White 3 , Tristen Ross 3 , Roy W A Peake 4 , Jeffery D Hanrahan 5 , Vilmarie Rodriguez 6 , Deborah L Renaud 7 , Mrinal S Patnaik 8 , Eugenia Chang 9 , Sylvia S Bottomley 10 , Mark D Fleming 2
Simon Berhe 1 , Matthew M Heeney 2 , Dean R Campagna 1 , John F Thompson 3 , Eric J White 3 , Tristen Ross 3 , Roy W A Peake 4 , Jeffery D Hanrahan 5 , Vilmarie Rodriguez 6 , Deborah L Renaud 7 , Mrinal S Patnaik 8 , Eugenia Chang 9 , Sylvia S Bottomley 10 , Mark D Fleming 2
+ et al

[No authors listed]

Author information
  • 1 Department of Pathology, Boston Children's Hospital, MA.
  • 2 Dana-Farber/Boston Children's Cancer and Blood Disorders Center, MA.
  • 3 Claritas Genomics, Cambridge, MA.
  • 4 Department of Laboratory Medicine, Boston Children's Hospital, MA.
  • 5 Driscoll Children's Hospital, Corpus Christi, TX.
  • 6 Department of Pediatrics.
  • 7 Department of Neurology.
  • 8 Department of Medicine Mayo Clinic, Rochester, MN.
  • 9 St. Luke's Health System, Boise, ID.
  • 10 Department of Medicine, University of Oklahoma College of Medicine, OK, USA.
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