(Q52656660)
Statements
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. (English)
Marta Kanabus
Rojeen Shahni
José W Saldanha
Elaine Murphy
William Van't Hoff
Simon Heales
Shamima Rahman
18 January 2015
38
2
211-219
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