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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
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has minor subject area list
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Atrophy; Base Sequence; Cataract; Child, Preschool; Codon, Nonsense; Exome; Fatal Outcome; Female; Fibroblasts; Genes, Recessive; Greenland; Humans; Infant; Infant, Newborn; Liver; Male; Molecular Sequence Data; Movement Disorders; Mutation, Missense; Neutropenia; Sequence Analysis, DNA
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information resource reference
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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.
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label
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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
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