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One or more keywords matched the following properties of CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

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has major subject area list Abnormalities, Multiple; Brain; Endopeptidase Clp; Epilepsy; Metabolism, Inborn Errors; Mitochondrial Diseases
information resource reference Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 05; 96(2):258-65.
label CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

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  • Mitochondrial Diseases