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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May; 121(5):2013-24.
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PubMed
subject areas
Animals
Child
Child, Preschool
COS Cells
Hearing Loss, Sensorineural
HeLa Cells
Homozygote
Humans
Infant
Infant, Newborn
Intracellular Signaling Peptides and Proteins
Kidney Glomerulus
Laminin
Membrane Proteins
Mutation
Nephrotic Syndrome
Phenotype
Podocytes
Rats
Ubiquinone
WT1 Proteins
Zebrafish