Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Yuruk Yildirim, Zeynep
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. [electronic resource] - European journal of medical genetics Jan 2020 - 103621 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2019.01.011 doi
Ataxia--genetics
Child
Female
Homozygote
Humans
Kidney--metabolism
Kidney Failure, Chronic--genetics
Male
Mitochondrial Diseases--genetics
Muscle Weakness--genetics
Mutation--genetics
Nephrotic Syndrome--genetics
Phenotype
Siblings
Ubiquinone--analogs & derivatives
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. [electronic resource] - European journal of medical genetics Jan 2020 - 103621 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2019.01.011 doi
Ataxia--genetics
Child
Female
Homozygote
Humans
Kidney--metabolism
Kidney Failure, Chronic--genetics
Male
Mitochondrial Diseases--genetics
Muscle Weakness--genetics
Mutation--genetics
Nephrotic Syndrome--genetics
Phenotype
Siblings
Ubiquinone--analogs & derivatives