Associated Papers
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.
Wang J et al.
Frontiers in Pediatrics, 2020
33344382 (PubMed )
Supplement: Table_2.XLSX › Result
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Kuniyoshi K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2015
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