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Compound Heterozygous Inheritance of Two Novel COQ2 Variants Results in Familial Coenzyme Q Deficiency

Abdelhakim Aliaa H.,Dharmadhikari Avinash V.,Ragi Sara D., Federal University of Pernambuco (UFPE),Xu Christine L.,Thomas Amanda L.,Buchovecky Christie M.,Mansukhani Mahesh M.,Naini Ali B.,Liao Jun,Jobanputra Vaidehi,Maumenee Irene H.,Tsang Stephen H.

Orphanet Journal of Rare Diseases（2020）

引用 11|浏览32
关键词
Coenzyme Q10,COQ2 gene,Oculorenal syndrome,Hereditary retinopathy
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