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Cataract 38
- ... newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub ...
- ... S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015- ...
- ... lens of the eyes starting at birth (congenital cataracts). The CAV1 gene mutations that cause this condition ...
- ... develop clouding of the lens of the eye (cataracts) but otherwise experience few of the long-term ... kinase. J Biol Chem. 2005 Sep 23;280(38):32784-91. doi: 10.1074/jbc.M505730200. Epub ...