Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

  1. Kullar, P.J.
  2. Gomez-Duran, A.
  3. Gammage, P.A.
  4. Garone, C.
  5. Minczuk, M.
  6. Golder, Z.
  7. Wilson, J.
  8. Montoya, J.
  9. Häkli, S.
  10. Kärppä, M.
  11. Horvath, R.
  12. Majamaa, K.
  13. Chinnery, P.F.
Journal:
Brain

ISSN: 1460-2156 0006-8950

Year of publication: 2018

Volume: 141

Issue: 1

Pages: 55-62

Type: Article

DOI: 10.1093/BRAIN/AWX295 GOOGLE SCHOLAR lock_openOpen access editor