Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
- Kullar, P.J.
- Gomez-Duran, A.
- Gammage, P.A.
- Garone, C.
- Minczuk, M.
- Golder, Z.
- Wilson, J.
- Montoya, J.
- Häkli, S.
- Kärppä, M.
- Horvath, R.
- Majamaa, K.
- Chinnery, P.F.
ISSN: 1460-2156, 0006-8950
Year of publication: 2018
Volume: 141
Issue: 1
Pages: 55-62
Type: Article