TY  - GEN
AU  - Yuruk Yildirim,Zeynep
AU  - Toksoy,Guven
AU  - Uyguner,Oya
AU  - Nayir,Ahmet
AU  - Yavuz,Sevgi
AU  - Altunoglu,Umut
AU  - Turkkan,Ozde Nisa
AU  - Sevinc,Burcu
AU  - Gokcay,Gulden
AU  - Kurkcu Gunes,Dilek
AU  - Kiyak,Aysel
AU  - Yilmaz,Alev
TI  - Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype
SN  - 1878-0849
PY  - 2020///0930
KW  - Ataxia
KW  - genetics
KW  - Child
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Kidney
KW  - metabolism
KW  - Kidney Failure, Chronic
KW  - Male
KW  - Mitochondrial Diseases
KW  - Muscle Weakness
KW  - Mutation
KW  - Nephrotic Syndrome
KW  - Phenotype
KW  - Siblings
KW  - Ubiquinone
KW  - analogs & derivatives
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2019.01.011
ER  -