Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

Journal of Inherited Metabolic Disease (2015) - Comments
pubmed: 25595726 doi: 10.1007/s10545-015-9813-0 issn: 1573-2665 issn: 0141-8955

Marta Kanabus, Rojeen Shahni, José W. Saldanha, Elaine Murphy, Vincent Plagnol, William Van’t Hoff, Simon Heales, Shamima Rahman