Publications:

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

American Journal Of Human Genetics

Duncan, Andrew J AJ; Bitner-Glindzicz, Maria M; Meunier, Brigitte B; Costello, Harry H; Hargreaves, Iain P IP; López, Luis C LC; Hirano, Michio M; Quinzii, Catarina M CM; Sadowski, Michael I MI; Hardy, John J; Singleton, Andrew A; Clayton, Peter T PT; Rahman, Shamima S

Publication Date: 2009-05

Variant appearance in text: rs4807140

PubMed Link: 19375058

Variant Present in the following documents:

• Main text

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