Bi‐allelic <i>CLPB</i> mutations cause cataract, renal cysts, nephrocalcinosis and 3‐methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation
Crossref DOI link: https://doi.org/10.1007/s10545-015-9813-0
Published Online: 2015-01-18
Published Print: 2015-03
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Kanabus, Marta
Shahni, Rojeen
Saldanha, José W.
Murphy, Elaine
Plagnol, Vincent
Hoff, William Van't
Heales, Simon
Rahman, Shamima
Version of Record valid from 2015-01-18