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Heterozygous SSBP1 start loss mutation co-segregates with h..:
Kullar, Peter J
;
Gomez-Duran, Aurora
;
Gammage, Payam A
...
https://www.repository.cam.ac.uk/handle/1810/275166. , 2018
Link:
https://www.repository.cam.ac.uk/handle/1810/275166
RT Journal T1
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_275166&Exemplar=1&LAN=DE A1 Kullar, Peter J A1 Gomez-Duran, Aurora A1 Gammage, Payam A A1 Garone, Caterina A1 Minczuk, Michal A1 Golder, Zoe A1 Wilson, Janet A1 Montoya, Julio A1 Häkli, Sanna A1 Kärppä, Mikko A1 Horvath, Rita A1 Majamaa, Kari A1 Chinnery, Patrick F PB Oxford University Press (OUP); http://dx.doi.org/10.1093/brain/awx295; Brain YR 2018 K1 genetics K1 hearing K1 mitochondrial diseases K1 muscle disease K1 neurodegeneration K1 Adolescent K1 Child K1 Preschool K1 DNA Mutational Analysis K1 DNA-Binding Proteins K1 Electron Transport Complex II K1 Electron Transport Complex IV K1 Family Health K1 Female K1 Fibroblasts K1 Hearing Loss K1 Heterozygote K1 Humans K1 Infant K1 Male K1 Mitochondrial Proteins K1 Mitochondrial Proton-Translocating ATPases K1 Muscle K1 Skeletal K1 Mutation K1 Young Adult JF https://www.repository.cam.ac.uk/handle/1810/275166 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/275166 DO https://www.repository.cam.ac.uk/handle/1810/275166 SF ELIB - SuUB Bremen
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