Title : Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation - Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
Author(s) : Kanabus M , Shahni R , Saldanha JW , Murphy E , Plagnol V , Hoff WV , Heales S , Rahman S |
Ref : J Inherit Metab Dis , 38 :211 , 2015 |
Abstract : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
ESTHER : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
PubMedSearch : Kanabus_2015_J.Inherit.Metab.Dis_38_211 |
PubMedID: 25595726 |
Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S (2015)
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation
J Inherit Metab Dis
38 :211
Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S (2015)
J Inherit Metab Dis
38 :211